SNP Links for Protein (Select 1034587498) - SNP

Links from Protein

Items: 1 to 20 of 1441

<< First< Prev

Page of 73

Next >Last >>

Select item 14909276291.

rs1490927629 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 14:21087011 (GRCh38)
14:21555170 (GRCh37)
Canonical SPDI:: NC_000014.9:21087010:G:A,NC_000014.9:21087010:G:C
Gene:: ARHGEF40 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,synonymous_variant
HGVS:: NC_000014.9:g.21087011G>A, NC_000014.9:g.21087011G>C, NC_000014.8:g.21555170G>A, NC_000014.8:g.21555170G>C, NG_034001.1:g.21752G>A, NG_034001.1:g.21752G>C, NM_018071.5:c.4149G>A, NM_018071.5:c.4149G>C, NM_018071.4:c.4149G>A, NM_018071.4:c.4149G>C, NM_001278529.2:c.2007G>A, NM_001278529.2:c.2007G>C, NM_001278529.1:c.2007G>A, NM_001278529.1:c.2007G>C, NM_001278530.2:c.2007G>A, NM_001278530.2:c.2007G>C, NM_001278530.1:c.2007G>A, NM_001278530.1:c.2007G>C, XM_011536937.4:c.4149G>A, XM_011536937.4:c.4149G>C, XM_011536937.3:c.4149G>A, XM_011536937.3:c.4149G>C, XM_011536937.2:c.4149G>A, XM_011536937.2:c.4149G>C, XM_011536937.1:c.4149G>A, XM_011536937.1:c.4149G>C, XM_005267844.4:c.4149G>A, XM_005267844.4:c.4149G>C, XM_005267844.3:c.4149G>A, XM_005267844.3:c.4149G>C, XM_005267844.2:c.4149G>A, XM_005267844.2:c.4149G>C, XM_005267844.1:c.4149G>A, XM_005267844.1:c.4149G>C, XM_017021434.3:c.3573G>A, XM_017021434.3:c.3573G>C, XM_017021434.2:c.3573G>A, XM_017021434.2:c.3573G>C, XM_017021434.1:c.3573G>A, XM_017021434.1:c.3573G>C, XM_047431564.1:c.4149G>A, XM_047431564.1:c.4149G>C

Select item 14905602032.

rs1490560203 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 14:21076409 (GRCh38)
14:21544568 (GRCh37)
Canonical SPDI:: NC_000014.9:21076408:G:A
Gene:: ARHGEF40 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,5_prime_UTR_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.21076409G>A, NC_000014.8:g.21544568G>A, NG_034001.1:g.11150G>A, NM_018071.5:c.1789G>A, NM_018071.4:c.1789G>A, NM_001278529.2:c.-381G>A, NM_001278529.1:c.-381G>A, NM_001278530.2:c.-354G>A, NM_001278530.1:c.-354G>A, XM_011536937.4:c.1789G>A, XM_011536937.3:c.1789G>A, XM_011536937.2:c.1789G>A, XM_011536937.1:c.1789G>A, XM_005267844.4:c.1789G>A, XM_005267844.3:c.1789G>A, XM_005267844.2:c.1789G>A, XM_005267844.1:c.1789G>A, XM_011536938.4:c.1789G>A, XM_011536938.3:c.1789G>A, XM_011536938.2:c.1789G>A, XM_011536938.1:c.1789G>A, XM_017021434.3:c.1213G>A, XM_017021434.2:c.1213G>A, XM_017021434.1:c.1213G>A, XM_047431564.1:c.1789G>A, NP_060541.3:p.Ala597Thr, XP_011535239.1:p.Ala597Thr, XP_005267901.1:p.Ala597Thr, XP_011535240.1:p.Ala597Thr, XP_016876923.1:p.Ala405Thr, XP_047287520.1:p.Ala597Thr

Select item 14902152933.

rs1490215293 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 14:21074560 (GRCh38)
14:21542719 (GRCh37)
Canonical SPDI:: NC_000014.9:21074559:C:T
Gene:: ARHGEF40 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,5_prime_UTR_variant
HGVS:: NC_000014.9:g.21074560C>T, NC_000014.8:g.21542719C>T, NG_034001.1:g.9301C>T, NM_018071.5:c.830C>T, NM_018071.4:c.830C>T, NM_001278529.2:c.-1340C>T, NM_001278529.1:c.-1340C>T, NM_001278530.2:c.-1146C>T, NM_001278530.1:c.-1146C>T, XM_011536937.4:c.830C>T, XM_011536937.3:c.830C>T, XM_011536937.2:c.830C>T, XM_011536937.1:c.830C>T, XM_005267844.4:c.830C>T, XM_005267844.3:c.830C>T, XM_005267844.2:c.830C>T, XM_005267844.1:c.830C>T, XM_011536938.4:c.830C>T, XM_011536938.3:c.830C>T, XM_011536938.2:c.830C>T, XM_011536938.1:c.830C>T, XM_017021434.3:c.254C>T, XM_017021434.2:c.254C>T, XM_017021434.1:c.254C>T, XM_047431564.1:c.830C>T, NP_060541.3:p.Ala277Val, XP_011535239.1:p.Ala277Val, XP_005267901.1:p.Ala277Val, XP_011535240.1:p.Ala277Val, XP_016876923.1:p.Ala85Val, XP_047287520.1:p.Ala277Val

Select item 14893753444.

rs1489375344 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 14:21076822 (GRCh38)
14:21544981 (GRCh37)
Canonical SPDI:: NC_000014.9:21076821:G:A,NC_000014.9:21076821:G:C
Gene:: ARHGEF40 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
HGVS:: NC_000014.9:g.21076822G>A, NC_000014.9:g.21076822G>C, NC_000014.8:g.21544981G>A, NC_000014.8:g.21544981G>C, NG_034001.1:g.11563G>A, NG_034001.1:g.11563G>C, NM_018071.5:c.1966G>A, NM_018071.5:c.1966G>C, NM_018071.4:c.1966G>A, NM_018071.4:c.1966G>C, NM_001278529.2:c.-177G>A, NM_001278529.2:c.-177G>C, NM_001278529.1:c.-177G>A, NM_001278529.1:c.-177G>C, NM_001278530.2:c.-177G>A, NM_001278530.2:c.-177G>C, NM_001278530.1:c.-177G>A, NM_001278530.1:c.-177G>C, XM_011536937.4:c.1966G>A, XM_011536937.4:c.1966G>C, XM_011536937.3:c.1966G>A, XM_011536937.3:c.1966G>C, XM_011536937.2:c.1966G>A, XM_011536937.2:c.1966G>C, XM_011536937.1:c.1966G>A, XM_011536937.1:c.1966G>C, XM_005267844.4:c.1966G>A, XM_005267844.4:c.1966G>C, XM_005267844.3:c.1966G>A, XM_005267844.3:c.1966G>C, XM_005267844.2:c.1966G>A, XM_005267844.2:c.1966G>C, XM_005267844.1:c.1966G>A, XM_005267844.1:c.1966G>C, XM_011536938.4:c.1966G>A, XM_011536938.4:c.1966G>C, XM_011536938.3:c.1966G>A, XM_011536938.3:c.1966G>C, XM_011536938.2:c.1966G>A, XM_011536938.2:c.1966G>C, XM_011536938.1:c.1966G>A, XM_011536938.1:c.1966G>C, XM_017021434.3:c.1390G>A, XM_017021434.3:c.1390G>C, XM_017021434.2:c.1390G>A, XM_017021434.2:c.1390G>C, XM_017021434.1:c.1390G>A, XM_017021434.1:c.1390G>C, XM_047431564.1:c.1966G>A, XM_047431564.1:c.1966G>C, NP_060541.3:p.Glu656Lys, NP_060541.3:p.Glu656Gln, XP_011535239.1:p.Glu656Lys, XP_011535239.1:p.Glu656Gln, XP_005267901.1:p.Glu656Lys, XP_005267901.1:p.Glu656Gln, XP_011535240.1:p.Glu656Lys, XP_011535240.1:p.Glu656Gln, XP_016876923.1:p.Glu464Lys, XP_016876923.1:p.Glu464Gln, XP_047287520.1:p.Glu656Lys, XP_047287520.1:p.Glu656Gln

Select item 14891746265.

rs1489174626 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 14:21082863 (GRCh38)
14:21551022 (GRCh37)
Canonical SPDI:: NC_000014.9:21082862:G:A
Gene:: ARHGEF40 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000011/3 (TOPMED)
A=0.000021/3 (GnomAD)
HGVS:: NC_000014.9:g.21082863G>A, NC_000014.8:g.21551022G>A, NG_034001.1:g.17604G>A, NM_018071.5:c.3519G>A, NM_018071.4:c.3519G>A, NM_001278529.2:c.1377G>A, NM_001278529.1:c.1377G>A, NM_001278530.2:c.1377G>A, NM_001278530.1:c.1377G>A, XM_011536937.4:c.3519G>A, XM_011536937.3:c.3519G>A, XM_011536937.2:c.3519G>A, XM_011536937.1:c.3519G>A, XM_005267844.4:c.3519G>A, XM_005267844.3:c.3519G>A, XM_005267844.2:c.3519G>A, XM_005267844.1:c.3519G>A, XM_017021434.3:c.2943G>A, XM_017021434.2:c.2943G>A, XM_017021434.1:c.2943G>A, XM_047431564.1:c.3519G>A

Select item 14884743346.

rs1488474334 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: 14:21078248 (GRCh38)
14:21546407 (GRCh37)
Canonical SPDI:: NC_000014.9:21078247:GGG:GG
Gene:: ARHGEF40 (Varview)
Functional Consequence:: coding_sequence_variant,5_prime_UTR_variant,frameshift_variant
Validated:: by frequency,by alfa
MAF:: GG=0.000084/1 (ALFA)
-=0.000011/3 (TOPMED)
HGVS:: NC_000014.9:g.21078250del, NC_000014.8:g.21546409del, NG_034001.1:g.12991del, NM_018071.5:c.2108del, NM_018071.4:c.2108del, NM_001278529.2:c.-35del, NM_001278529.1:c.-35del, NM_001278530.2:c.-35del, NM_001278530.1:c.-35del, XM_011536937.4:c.2108del, XM_011536937.3:c.2108del, XM_011536937.2:c.2108del, XM_011536937.1:c.2108del, XM_005267844.4:c.2108del, XM_005267844.3:c.2108del, XM_005267844.2:c.2108del, XM_005267844.1:c.2108del, XM_011536938.4:c.2108del, XM_011536938.3:c.2108del, XM_011536938.2:c.2108del, XM_011536938.1:c.2108del, XM_017021434.3:c.1532del, XM_017021434.2:c.1532del, XM_017021434.1:c.1532del, XM_047431564.1:c.2108del, NP_060541.3:p.Gly703fs, XP_011535239.1:p.Gly703fs, XP_005267901.1:p.Gly703fs, XP_011535240.1:p.Gly703fs, XP_016876923.1:p.Gly511fs, XP_047287520.1:p.Gly703fs

Select item 14871042807.

rs1487104280 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 14:21074588 (GRCh38)
14:21542747 (GRCh37)
Canonical SPDI:: NC_000014.9:21074587:C:A,NC_000014.9:21074587:C:T
Gene:: ARHGEF40 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,5_prime_UTR_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000014.9:g.21074588C>A, NC_000014.9:g.21074588C>T, NC_000014.8:g.21542747C>A, NC_000014.8:g.21542747C>T, NG_034001.1:g.9329C>A, NG_034001.1:g.9329C>T, NM_018071.5:c.858C>A, NM_018071.5:c.858C>T, NM_018071.4:c.858C>A, NM_018071.4:c.858C>T, NM_001278529.2:c.-1312C>A, NM_001278529.2:c.-1312C>T, NM_001278529.1:c.-1312C>A, NM_001278529.1:c.-1312C>T, NM_001278530.2:c.-1118C>A, NM_001278530.2:c.-1118C>T, NM_001278530.1:c.-1118C>A, NM_001278530.1:c.-1118C>T, XM_011536937.4:c.858C>A, XM_011536937.4:c.858C>T, XM_011536937.3:c.858C>A, XM_011536937.3:c.858C>T, XM_011536937.2:c.858C>A, XM_011536937.2:c.858C>T, XM_011536937.1:c.858C>A, XM_011536937.1:c.858C>T, XM_005267844.4:c.858C>A, XM_005267844.4:c.858C>T, XM_005267844.3:c.858C>A, XM_005267844.3:c.858C>T, XM_005267844.2:c.858C>A, XM_005267844.2:c.858C>T, XM_005267844.1:c.858C>A, XM_005267844.1:c.858C>T, XM_011536938.4:c.858C>A, XM_011536938.4:c.858C>T, XM_011536938.3:c.858C>A, XM_011536938.3:c.858C>T, XM_011536938.2:c.858C>A, XM_011536938.2:c.858C>T, XM_011536938.1:c.858C>A, XM_011536938.1:c.858C>T, XM_017021434.3:c.282C>A, XM_017021434.3:c.282C>T, XM_017021434.2:c.282C>A, XM_017021434.2:c.282C>T, XM_017021434.1:c.282C>A, XM_017021434.1:c.282C>T, XM_047431564.1:c.858C>A, XM_047431564.1:c.858C>T, NP_060541.3:p.His286Gln, XP_011535239.1:p.His286Gln, XP_005267901.1:p.His286Gln, XP_011535240.1:p.His286Gln, XP_016876923.1:p.His94Gln, XP_047287520.1:p.His286Gln

Select item 14860779938.

rs1486077993 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 14:21075661 (GRCh38)
14:21543820 (GRCh37)
Canonical SPDI:: NC_000014.9:21075660:T:C
Gene:: ARHGEF40 (Varview)
Functional Consequence:: coding_sequence_variant,5_prime_UTR_variant,synonymous_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.21075661T>C, NC_000014.8:g.21543820T>C, NG_034001.1:g.10402T>C, NM_018071.5:c.1635T>C, NM_018071.4:c.1635T>C, NM_001278529.2:c.-535T>C, NM_001278529.1:c.-535T>C, NM_001278530.2:c.-508T>C, NM_001278530.1:c.-508T>C, XM_011536937.4:c.1635T>C, XM_011536937.3:c.1635T>C, XM_011536937.2:c.1635T>C, XM_011536937.1:c.1635T>C, XM_005267844.4:c.1635T>C, XM_005267844.3:c.1635T>C, XM_005267844.2:c.1635T>C, XM_005267844.1:c.1635T>C, XM_011536938.4:c.1635T>C, XM_011536938.3:c.1635T>C, XM_011536938.2:c.1635T>C, XM_011536938.1:c.1635T>C, XM_017021434.3:c.1059T>C, XM_017021434.2:c.1059T>C, XM_017021434.1:c.1059T>C, XM_047431564.1:c.1635T>C

Select item 14858997669.

rs1485899766 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 14:21081980 (GRCh38)
14:21550139 (GRCh37)
Canonical SPDI:: NC_000014.9:21081979:C:T
Gene:: ARHGEF40 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,stop_gained,downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.21081980C>T, NC_000014.8:g.21550139C>T, NG_034001.1:g.16721C>T, NM_018071.5:c.3112C>T, NM_018071.4:c.3112C>T, NM_001278529.2:c.970C>T, NM_001278529.1:c.970C>T, NM_001278530.2:c.970C>T, NM_001278530.1:c.970C>T, XM_011536937.4:c.3112C>T, XM_011536937.3:c.3112C>T, XM_011536937.2:c.3112C>T, XM_011536937.1:c.3112C>T, XM_005267844.4:c.3112C>T, XM_005267844.3:c.3112C>T, XM_005267844.2:c.3112C>T, XM_005267844.1:c.3112C>T, XM_017021434.3:c.2536C>T, XM_017021434.2:c.2536C>T, XM_017021434.1:c.2536C>T, XM_047431564.1:c.3112C>T, NP_060541.3:p.Arg1038Ter, NP_001265458.1:p.Arg324Ter, NP_001265459.1:p.Arg324Ter, XP_011535239.1:p.Arg1038Ter, XP_005267901.1:p.Arg1038Ter, XP_016876923.1:p.Arg846Ter, XP_047287520.1:p.Arg1038Ter

Select item 148504421010.

rs1485044210 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 14:21074604 (GRCh38)
14:21542763 (GRCh37)
Canonical SPDI:: NC_000014.9:21074603:C:A
Gene:: ARHGEF40 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,5_prime_UTR_variant
HGVS:: NC_000014.9:g.21074604C>A, NC_000014.8:g.21542763C>A, NG_034001.1:g.9345C>A, NM_018071.5:c.874C>A, NM_018071.4:c.874C>A, NM_001278529.2:c.-1296C>A, NM_001278529.1:c.-1296C>A, NM_001278530.2:c.-1102C>A, NM_001278530.1:c.-1102C>A, XM_011536937.4:c.874C>A, XM_011536937.3:c.874C>A, XM_011536937.2:c.874C>A, XM_011536937.1:c.874C>A, XM_005267844.4:c.874C>A, XM_005267844.3:c.874C>A, XM_005267844.2:c.874C>A, XM_005267844.1:c.874C>A, XM_011536938.4:c.874C>A, XM_011536938.3:c.874C>A, XM_011536938.2:c.874C>A, XM_011536938.1:c.874C>A, XM_017021434.3:c.298C>A, XM_017021434.2:c.298C>A, XM_017021434.1:c.298C>A, XM_047431564.1:c.874C>A, NP_060541.3:p.Gln292Lys, XP_011535239.1:p.Gln292Lys, XP_005267901.1:p.Gln292Lys, XP_011535240.1:p.Gln292Lys, XP_016876923.1:p.Gln100Lys, XP_047287520.1:p.Gln292Lys

Select item 148493514311.

rs1484935143 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 14:21081740 (GRCh38)
14:21549899 (GRCh37)
Canonical SPDI:: NC_000014.9:21081739:G:A,NC_000014.9:21081739:G:T
Gene:: ARHGEF40 (Varview)
Functional Consequence:: downstream_transcript_variant,genic_downstream_transcript_variant,missense_variant,coding_sequence_variant,stop_gained
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000051/1 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000014.9:g.21081740G>A, NC_000014.9:g.21081740G>T, NC_000014.8:g.21549899G>A, NC_000014.8:g.21549899G>T, NG_034001.1:g.16481G>A, NG_034001.1:g.16481G>T, NM_018071.5:c.2872G>A, NM_018071.5:c.2872G>T, NM_018071.4:c.2872G>A, NM_018071.4:c.2872G>T, NM_001278529.2:c.730G>A, NM_001278529.2:c.730G>T, NM_001278529.1:c.730G>A, NM_001278529.1:c.730G>T, NM_001278530.2:c.730G>A, NM_001278530.2:c.730G>T, NM_001278530.1:c.730G>A, NM_001278530.1:c.730G>T, XM_011536937.4:c.2872G>A, XM_011536937.4:c.2872G>T, XM_011536937.3:c.2872G>A, XM_011536937.3:c.2872G>T, XM_011536937.2:c.2872G>A, XM_011536937.2:c.2872G>T, XM_011536937.1:c.2872G>A, XM_011536937.1:c.2872G>T, XM_005267844.4:c.2872G>A, XM_005267844.4:c.2872G>T, XM_005267844.3:c.2872G>A, XM_005267844.3:c.2872G>T, XM_005267844.2:c.2872G>A, XM_005267844.2:c.2872G>T, XM_005267844.1:c.2872G>A, XM_005267844.1:c.2872G>T, XM_017021434.3:c.2296G>A, XM_017021434.3:c.2296G>T, XM_017021434.2:c.2296G>A, XM_017021434.2:c.2296G>T, XM_017021434.1:c.2296G>A, XM_017021434.1:c.2296G>T, XM_047431564.1:c.2872G>A, XM_047431564.1:c.2872G>T, NP_060541.3:p.Glu958Lys, NP_060541.3:p.Glu958Ter, NP_001265458.1:p.Glu244Lys, NP_001265458.1:p.Glu244Ter, NP_001265459.1:p.Glu244Lys, NP_001265459.1:p.Glu244Ter, XP_011535239.1:p.Glu958Lys, XP_011535239.1:p.Glu958Ter, XP_005267901.1:p.Glu958Lys, XP_005267901.1:p.Glu958Ter, XP_016876923.1:p.Glu766Lys, XP_016876923.1:p.Glu766Ter, XP_047287520.1:p.Glu958Lys, XP_047287520.1:p.Glu958Ter

Select item 148430359312.

rs1484303593 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 14:21075495 (GRCh38)
14:21543654 (GRCh37)
Canonical SPDI:: NC_000014.9:21075494:G:A,NC_000014.9:21075494:G:T
Gene:: ARHGEF40 (Varview)
Functional Consequence:: coding_sequence_variant,5_prime_UTR_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000014.9:g.21075495G>A, NC_000014.9:g.21075495G>T, NC_000014.8:g.21543654G>A, NC_000014.8:g.21543654G>T, NG_034001.1:g.10236G>A, NG_034001.1:g.10236G>T, NM_018071.5:c.1614G>A, NM_018071.5:c.1614G>T, NM_018071.4:c.1614G>A, NM_018071.4:c.1614G>T, NM_001278529.2:c.-556G>A, NM_001278529.2:c.-556G>T, NM_001278529.1:c.-556G>A, NM_001278529.1:c.-556G>T, NM_001278530.2:c.-551G>A, NM_001278530.2:c.-551G>T, NM_001278530.1:c.-551G>A, NM_001278530.1:c.-551G>T, XM_011536937.4:c.1614G>A, XM_011536937.4:c.1614G>T, XM_011536937.3:c.1614G>A, XM_011536937.3:c.1614G>T, XM_011536937.2:c.1614G>A, XM_011536937.2:c.1614G>T, XM_011536937.1:c.1614G>A, XM_011536937.1:c.1614G>T, XM_005267844.4:c.1614G>A, XM_005267844.4:c.1614G>T, XM_005267844.3:c.1614G>A, XM_005267844.3:c.1614G>T, XM_005267844.2:c.1614G>A, XM_005267844.2:c.1614G>T, XM_005267844.1:c.1614G>A, XM_005267844.1:c.1614G>T, XM_011536938.4:c.1614G>A, XM_011536938.4:c.1614G>T, XM_011536938.3:c.1614G>A, XM_011536938.3:c.1614G>T, XM_011536938.2:c.1614G>A, XM_011536938.2:c.1614G>T, XM_011536938.1:c.1614G>A, XM_011536938.1:c.1614G>T, XM_017021434.3:c.1038G>A, XM_017021434.3:c.1038G>T, XM_017021434.2:c.1038G>A, XM_017021434.2:c.1038G>T, XM_017021434.1:c.1038G>A, XM_017021434.1:c.1038G>T, XM_047431564.1:c.1614G>A, XM_047431564.1:c.1614G>T

Select item 148419118213.

rs1484191182 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 14:21078385 (GRCh38)
14:21546544 (GRCh37)
Canonical SPDI:: NC_000014.9:21078384:A:G
Gene:: ARHGEF40 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,initiator_codon_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000014.9:g.21078385A>G, NC_000014.8:g.21546544A>G, NG_034001.1:g.13126A>G, NM_018071.5:c.2143A>G, NM_018071.4:c.2143A>G, NM_001278529.2:c.1A>G, NM_001278529.1:c.1A>G, NM_001278530.2:c.1A>G, NM_001278530.1:c.1A>G, XM_011536937.4:c.2143A>G, XM_011536937.3:c.2143A>G, XM_011536937.2:c.2143A>G, XM_011536937.1:c.2143A>G, XM_005267844.4:c.2143A>G, XM_005267844.3:c.2143A>G, XM_005267844.2:c.2143A>G, XM_005267844.1:c.2143A>G, XM_011536938.4:c.2143A>G, XM_011536938.3:c.2143A>G, XM_011536938.2:c.2143A>G, XM_011536938.1:c.2143A>G, XM_017021434.3:c.1567A>G, XM_017021434.2:c.1567A>G, XM_017021434.1:c.1567A>G, XM_047431564.1:c.2143A>G, NP_060541.3:p.Met715Val, NP_001265458.1:p.Met1Val, NP_001265459.1:p.Met1Val, XP_011535239.1:p.Met715Val, XP_005267901.1:p.Met715Val, XP_011535240.1:p.Met715Val, XP_016876923.1:p.Met523Val, XP_047287520.1:p.Met715Val

Select item 148403036914.

rs1484030369 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 14:21087364 (GRCh38)
14:21555523 (GRCh37)
Canonical SPDI:: NC_000014.9:21087363:G:A
Gene:: ARHGEF40 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000014.9:g.21087364G>A, NC_000014.8:g.21555523G>A, NG_034001.1:g.22105G>A, NM_018071.5:c.4288G>A, NM_018071.4:c.4288G>A, NM_001278529.2:c.2146G>A, NM_001278529.1:c.2146G>A, XM_011536937.4:c.4288G>A, XM_011536937.3:c.4288G>A, XM_011536937.2:c.4288G>A, XM_011536937.1:c.4288G>A, XM_017021434.3:c.3712G>A, XM_017021434.2:c.3712G>A, XM_017021434.1:c.3712G>A, NP_060541.3:p.Ala1430Thr, NP_001265458.1:p.Ala716Thr, XP_011535239.1:p.Ala1430Thr, XP_016876923.1:p.Ala1238Thr

Select item 148375273815.

rs1483752738 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 14:21081629 (GRCh38)
14:21549788 (GRCh37)
Canonical SPDI:: NC_000014.9:21081628:G:A
Gene:: ARHGEF40 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,missense_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000057/2 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000014.9:g.21081629G>A, NC_000014.8:g.21549788G>A, NG_034001.1:g.16370G>A, NM_018071.5:c.2761G>A, NM_018071.4:c.2761G>A, NM_001278529.2:c.619G>A, NM_001278529.1:c.619G>A, NM_001278530.2:c.619G>A, NM_001278530.1:c.619G>A, XM_011536937.4:c.2761G>A, XM_011536937.3:c.2761G>A, XM_011536937.2:c.2761G>A, XM_011536937.1:c.2761G>A, XM_005267844.4:c.2761G>A, XM_005267844.3:c.2761G>A, XM_005267844.2:c.2761G>A, XM_005267844.1:c.2761G>A, XM_017021434.3:c.2185G>A, XM_017021434.2:c.2185G>A, XM_017021434.1:c.2185G>A, XM_047431564.1:c.2761G>A, NP_060541.3:p.Glu921Lys, NP_001265458.1:p.Glu207Lys, NP_001265459.1:p.Glu207Lys, XP_011535239.1:p.Glu921Lys, XP_005267901.1:p.Glu921Lys, XP_016876923.1:p.Glu729Lys, XP_047287520.1:p.Glu921Lys

Select item 148327516516.

rs1483275165 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 14:21076636 (GRCh38)
14:21544795 (GRCh37)
Canonical SPDI:: NC_000014.9:21076635:G:T
Gene:: ARHGEF40 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,5_prime_UTR_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.21076636G>T, NC_000014.8:g.21544795G>T, NG_034001.1:g.11377G>T, NM_018071.5:c.1910G>T, NM_018071.4:c.1910G>T, NM_001278529.2:c.-233G>T, NM_001278529.1:c.-233G>T, NM_001278530.2:c.-233G>T, NM_001278530.1:c.-233G>T, XM_011536937.4:c.1910G>T, XM_011536937.3:c.1910G>T, XM_011536937.2:c.1910G>T, XM_011536937.1:c.1910G>T, XM_005267844.4:c.1910G>T, XM_005267844.3:c.1910G>T, XM_005267844.2:c.1910G>T, XM_005267844.1:c.1910G>T, XM_011536938.4:c.1910G>T, XM_011536938.3:c.1910G>T, XM_011536938.2:c.1910G>T, XM_011536938.1:c.1910G>T, XM_017021434.3:c.1334G>T, XM_017021434.2:c.1334G>T, XM_017021434.1:c.1334G>T, XM_047431564.1:c.1910G>T, NP_060541.3:p.Gly637Val, XP_011535239.1:p.Gly637Val, XP_005267901.1:p.Gly637Val, XP_011535240.1:p.Gly637Val, XP_016876923.1:p.Gly445Val, XP_047287520.1:p.Gly637Val

Select item 148285461817.

rs1482854618 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 14:21082045 (GRCh38)
14:21550204 (GRCh37)
Canonical SPDI:: NC_000014.9:21082044:G:A,NC_000014.9:21082044:G:T
Gene:: ARHGEF40 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.00003/1 (ALFA)
HGVS:: NC_000014.9:g.21082045G>A, NC_000014.9:g.21082045G>T, NC_000014.8:g.21550204G>A, NC_000014.8:g.21550204G>T, NG_034001.1:g.16786G>A, NG_034001.1:g.16786G>T, NM_018071.5:c.3177G>A, NM_018071.5:c.3177G>T, NM_018071.4:c.3177G>A, NM_018071.4:c.3177G>T, NM_001278529.2:c.1035G>A, NM_001278529.2:c.1035G>T, NM_001278529.1:c.1035G>A, NM_001278529.1:c.1035G>T, NM_001278530.2:c.1035G>A, NM_001278530.2:c.1035G>T, NM_001278530.1:c.1035G>A, NM_001278530.1:c.1035G>T, XM_011536937.4:c.3177G>A, XM_011536937.4:c.3177G>T, XM_011536937.3:c.3177G>A, XM_011536937.3:c.3177G>T, XM_011536937.2:c.3177G>A, XM_011536937.2:c.3177G>T, XM_011536937.1:c.3177G>A, XM_011536937.1:c.3177G>T, XM_005267844.4:c.3177G>A, XM_005267844.4:c.3177G>T, XM_005267844.3:c.3177G>A, XM_005267844.3:c.3177G>T, XM_005267844.2:c.3177G>A, XM_005267844.2:c.3177G>T, XM_005267844.1:c.3177G>A, XM_005267844.1:c.3177G>T, XM_017021434.3:c.2601G>A, XM_017021434.3:c.2601G>T, XM_017021434.2:c.2601G>A, XM_017021434.2:c.2601G>T, XM_017021434.1:c.2601G>A, XM_017021434.1:c.2601G>T, XM_047431564.1:c.3177G>A, XM_047431564.1:c.3177G>T

Select item 148264040218.

rs1482640402 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 14:21075445 (GRCh38)
14:21543604 (GRCh37)
Canonical SPDI:: NC_000014.9:21075444:G:C
Gene:: ARHGEF40 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000014.9:g.21075445G>C, NC_000014.8:g.21543604G>C, NG_034001.1:g.10186G>C, NM_018071.5:c.1564G>C, NM_018071.4:c.1564G>C, NM_001278529.2:c.-606G>C, NM_001278529.1:c.-606G>C, NM_001278530.2:c.-601G>C, NM_001278530.1:c.-601G>C, XM_011536937.4:c.1564G>C, XM_011536937.3:c.1564G>C, XM_011536937.2:c.1564G>C, XM_011536937.1:c.1564G>C, XM_005267844.4:c.1564G>C, XM_005267844.3:c.1564G>C, XM_005267844.2:c.1564G>C, XM_005267844.1:c.1564G>C, XM_011536938.4:c.1564G>C, XM_011536938.3:c.1564G>C, XM_011536938.2:c.1564G>C, XM_011536938.1:c.1564G>C, XM_017021434.3:c.988G>C, XM_017021434.2:c.988G>C, XM_017021434.1:c.988G>C, XM_047431564.1:c.1564G>C, NP_060541.3:p.Asp522His, XP_011535239.1:p.Asp522His, XP_005267901.1:p.Asp522His, XP_011535240.1:p.Asp522His, XP_016876923.1:p.Asp330His, XP_047287520.1:p.Asp522His

Select item 148232925019.

rs1482329250 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 14:21085725 (GRCh38)
14:21553884 (GRCh37)
Canonical SPDI:: NC_000014.9:21085724:A:G
Gene:: ARHGEF40 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000014.9:g.21085725A>G, NC_000014.8:g.21553884A>G, NG_034001.1:g.20466A>G, NM_018071.5:c.3997A>G, NM_018071.4:c.3997A>G, NM_001278529.2:c.1855A>G, NM_001278529.1:c.1855A>G, NM_001278530.2:c.1855A>G, NM_001278530.1:c.1855A>G, XM_011536937.4:c.3997A>G, XM_011536937.3:c.3997A>G, XM_011536937.2:c.3997A>G, XM_011536937.1:c.3997A>G, XM_005267844.4:c.3997A>G, XM_005267844.3:c.3997A>G, XM_005267844.2:c.3997A>G, XM_005267844.1:c.3997A>G, XM_017021434.3:c.3421A>G, XM_017021434.2:c.3421A>G, XM_017021434.1:c.3421A>G, XM_047431564.1:c.3997A>G, NP_060541.3:p.Ser1333Gly, NP_001265458.1:p.Ser619Gly, NP_001265459.1:p.Ser619Gly, XP_011535239.1:p.Ser1333Gly, XP_005267901.1:p.Ser1333Gly, XP_016876923.1:p.Ser1141Gly, XP_047287520.1:p.Ser1333Gly

Select item 148118791620.

rs1481187916 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 14:21074742 (GRCh38)
14:21542901 (GRCh37)
Canonical SPDI:: NC_000014.9:21074741:G:A
Gene:: ARHGEF40 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000038/9 (GnomAD_exomes)
A=0.000078/11 (GnomAD)
A=0.000098/26 (TOPMED)
HGVS:: NC_000014.9:g.21074742G>A, NC_000014.8:g.21542901G>A, NG_034001.1:g.9483G>A, NM_018071.5:c.1012G>A, NM_018071.4:c.1012G>A, NM_001278529.2:c.-1158G>A, NM_001278529.1:c.-1158G>A, NM_001278530.2:c.-964G>A, NM_001278530.1:c.-964G>A, XM_011536937.4:c.1012G>A, XM_011536937.3:c.1012G>A, XM_011536937.2:c.1012G>A, XM_011536937.1:c.1012G>A, XM_005267844.4:c.1012G>A, XM_005267844.3:c.1012G>A, XM_005267844.2:c.1012G>A, XM_005267844.1:c.1012G>A, XM_011536938.4:c.1012G>A, XM_011536938.3:c.1012G>A, XM_011536938.2:c.1012G>A, XM_011536938.1:c.1012G>A, XM_017021434.3:c.436G>A, XM_017021434.2:c.436G>A, XM_017021434.1:c.436G>A, XM_047431564.1:c.1012G>A, NP_060541.3:p.Ala338Thr, XP_011535239.1:p.Ala338Thr, XP_005267901.1:p.Ala338Thr, XP_011535240.1:p.Ala338Thr, XP_016876923.1:p.Ala146Thr, XP_047287520.1:p.Ala338Thr

<< First< Prev

Page of 73

Next >Last >>

dbSNP

Result Filters

Clinical Significance

Validation Status

Publication

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Send to:

Links from Protein

Items: 1 to 20 of 1441

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity