SNP Links for Protein (Select 11863154) - SNP

Links from Protein

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Select item 14906735811.

rs1490673581 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:118581456 (GRCh38)
11:118452171 (GRCh37)
Canonical SPDI:: NC_000011.10:118581455:A:G
Gene:: ARCN1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.118581456A>G, NC_000011.9:g.118452171A>G, NG_051953.1:g.14070A>G, NM_001655.5:c.214A>G, NM_001655.4:c.214A>G, NW_003871072.2:g.206894A>G, XM_005271542.5:c.214A>G, XM_005271542.4:c.214A>G, XM_005271542.3:c.214A>G, XM_005271542.2:c.214A>G, XM_005271542.1:c.214A>G, NP_001646.2:p.Lys72Glu, XP_005271599.1:p.Lys72Glu

Select item 14818476392.

rs1481847639 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:118581428 (GRCh38)
11:118452143 (GRCh37)
Canonical SPDI:: NC_000011.10:118581427:G:A
Gene:: ARCN1 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000011.10:g.118581428G>A, NC_000011.9:g.118452143G>A, NG_051953.1:g.14042G>A, NM_001655.5:c.186G>A, NM_001655.4:c.186G>A, NW_003871072.2:g.206866G>A, XM_005271542.5:c.186G>A, XM_005271542.4:c.186G>A, XM_005271542.3:c.186G>A, XM_005271542.2:c.186G>A, XM_005271542.1:c.186G>A

Select item 14763956383.

rs1476395638 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:118583851 (GRCh38)
11:118454566 (GRCh37)
Canonical SPDI:: NC_000011.10:118583850:A:G
Gene:: ARCN1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.118583851A>G, NC_000011.9:g.118454566A>G, NG_051953.1:g.16465A>G, NM_001655.5:c.490A>G, NM_001655.4:c.490A>G, NM_001142281.2:c.226A>G, NM_001142281.1:c.226A>G, NW_003871072.2:g.209289A>G, XM_005271542.5:c.490A>G, XM_005271542.4:c.490A>G, XM_005271542.3:c.490A>G, XM_005271542.2:c.490A>G, XM_005271542.1:c.490A>G, XM_047426899.1:c.226A>G, NP_001646.2:p.Lys164Glu, NP_001135753.1:p.Lys76Glu, XP_005271599.1:p.Lys164Glu, XP_047282855.1:p.Lys76Glu

Select item 14725351654.

rs1472535165 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 11:118597849 (GRCh38)
11:118468564 (GRCh37)
Canonical SPDI:: NC_000011.10:118597848:C:G,NC_000011.10:118597848:C:T
Gene:: ARCN1 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000011.10:g.118597849C>G, NC_000011.10:g.118597849C>T, NC_000011.9:g.118468564C>G, NC_000011.9:g.118468564C>T, NG_051953.1:g.30463C>G, NG_051953.1:g.30463C>T, NM_001655.5:c.1384C>G, NM_001655.5:c.1384C>T, NM_001655.4:c.1384C>G, NM_001655.4:c.1384C>T, NM_001142281.2:c.1120C>G, NM_001142281.2:c.1120C>T, NM_001142281.1:c.1120C>G, NM_001142281.1:c.1120C>T, NW_003871072.2:g.223287C>G, NW_003871072.2:g.223287C>T, NP_001646.2:p.Pro462Ala, NP_001646.2:p.Pro462Ser, NP_001135753.1:p.Pro374Ala, NP_001135753.1:p.Pro374Ser

Select item 14708633235.

rs1470863323 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:118581368 (GRCh38)
11:118452083 (GRCh37)
Canonical SPDI:: NC_000011.10:118581367:T:C
Gene:: ARCN1 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000028/1 (ALFA)
C=0.000011/3 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000011.10:g.118581368T>C, NC_000011.9:g.118452083T>C, NG_051953.1:g.13982T>C, NM_001655.5:c.126T>C, NM_001655.4:c.126T>C, NW_003871072.2:g.206806T>C, XM_005271542.5:c.126T>C, XM_005271542.4:c.126T>C, XM_005271542.3:c.126T>C, XM_005271542.2:c.126T>C, XM_005271542.1:c.126T>C

Select item 14661115946.

rs1466111594 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 11:118597887 (GRCh38)
11:118468602 (GRCh37)
Canonical SPDI:: NC_000011.10:118597886:C:A,NC_000011.10:118597886:C:T
Gene:: ARCN1 (Varview)
Functional Consequence:: intron_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000011.10:g.118597887C>A, NC_000011.10:g.118597887C>T, NC_000011.9:g.118468602C>A, NC_000011.9:g.118468602C>T, NG_051953.1:g.30501C>A, NG_051953.1:g.30501C>T, NM_001655.5:c.1422C>A, NM_001655.5:c.1422C>T, NM_001655.4:c.1422C>A, NM_001655.4:c.1422C>T, NM_001142281.2:c.1158C>A, NM_001142281.2:c.1158C>T, NM_001142281.1:c.1158C>A, NM_001142281.1:c.1158C>T, NW_003871072.2:g.223325C>A, NW_003871072.2:g.223325C>T

Select item 14642199197.

rs1464219919 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:118584543 (GRCh38)
11:118455258 (GRCh37)
Canonical SPDI:: NC_000011.10:118584542:G:A
Gene:: ARCN1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.118584543G>A, NC_000011.9:g.118455258G>A, NG_051953.1:g.17157G>A, NM_001655.5:c.717G>A, NM_001655.4:c.717G>A, NM_001142281.2:c.453G>A, NM_001142281.1:c.453G>A, NW_003871072.2:g.209981G>A, XM_005271542.5:c.717G>A, XM_005271542.4:c.717G>A, XM_005271542.3:c.717G>A, XM_005271542.2:c.717G>A, XM_005271542.1:c.717G>A, XM_047426899.1:c.453G>A

Select item 14615961278.

rs1461596127 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 11:118583975 (GRCh38)
11:118454690 (GRCh37)
Canonical SPDI:: NC_000011.10:118583974:T:A,NC_000011.10:118583974:T:C
Gene:: ARCN1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_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)
C=0.000035/1 (TOMMO)
HGVS:: NC_000011.10:g.118583975T>A, NC_000011.10:g.118583975T>C, NC_000011.9:g.118454690T>A, NC_000011.9:g.118454690T>C, NG_051953.1:g.16589T>A, NG_051953.1:g.16589T>C, NM_001655.5:c.614T>A, NM_001655.5:c.614T>C, NM_001655.4:c.614T>A, NM_001655.4:c.614T>C, NM_001142281.2:c.350T>A, NM_001142281.2:c.350T>C, NM_001142281.1:c.350T>A, NM_001142281.1:c.350T>C, NW_003871072.2:g.209413T>A, NW_003871072.2:g.209413T>C, XM_005271542.5:c.614T>A, XM_005271542.5:c.614T>C, XM_005271542.4:c.614T>A, XM_005271542.4:c.614T>C, XM_005271542.3:c.614T>A, XM_005271542.3:c.614T>C, XM_005271542.2:c.614T>A, XM_005271542.2:c.614T>C, XM_005271542.1:c.614T>A, XM_005271542.1:c.614T>C, XM_047426899.1:c.350T>A, XM_047426899.1:c.350T>C, NP_001646.2:p.Ile205Asn, NP_001646.2:p.Ile205Thr, NP_001135753.1:p.Ile117Asn, NP_001135753.1:p.Ile117Thr, XP_005271599.1:p.Ile205Asn, XP_005271599.1:p.Ile205Thr, XP_047282855.1:p.Ile117Asn, XP_047282855.1:p.Ile117Thr

Select item 14471621079.

rs1447162107 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:118592717 (GRCh38)
11:118463432 (GRCh37)
Canonical SPDI:: NC_000011.10:118592716:A:G
Gene:: ARCN1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000015/4 (TOPMED)
HGVS:: NC_000011.10:g.118592717A>G, NC_000011.9:g.118463432A>G, NG_051953.1:g.25331A>G, NM_001655.5:c.993A>G, NM_001655.4:c.993A>G, NM_001142281.2:c.729A>G, NM_001142281.1:c.729A>G, NW_003871072.2:g.218155A>G, XM_005271542.5:c.993A>G, XM_005271542.4:c.993A>G, XM_005271542.3:c.993A>G, XM_005271542.2:c.993A>G, XM_005271542.1:c.993A>G, XM_047426899.1:c.729A>G

Select item 144304995010.

rs1443049950 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 11:118590468 (GRCh38)
11:118461183 (GRCh37)
Canonical SPDI:: NC_000011.10:118590467:C:A,NC_000011.10:118590467:C:G,NC_000011.10:118590467:C:T
Gene:: ARCN1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.00004/1 (TOMMO)
HGVS:: NC_000011.10:g.118590468C>A, NC_000011.10:g.118590468C>G, NC_000011.10:g.118590468C>T, NC_000011.9:g.118461183C>A, NC_000011.9:g.118461183C>G, NC_000011.9:g.118461183C>T, NG_051953.1:g.23082C>A, NG_051953.1:g.23082C>G, NG_051953.1:g.23082C>T, NM_001655.5:c.946C>A, NM_001655.5:c.946C>G, NM_001655.5:c.946C>T, NM_001655.4:c.946C>A, NM_001655.4:c.946C>G, NM_001655.4:c.946C>T, NM_001142281.2:c.682C>A, NM_001142281.2:c.682C>G, NM_001142281.2:c.682C>T, NM_001142281.1:c.682C>A, NM_001142281.1:c.682C>G, NM_001142281.1:c.682C>T, NW_003871072.2:g.215906C>A, NW_003871072.2:g.215906C>G, NW_003871072.2:g.215906C>T, XM_005271542.5:c.946C>A, XM_005271542.5:c.946C>G, XM_005271542.5:c.946C>T, XM_005271542.4:c.946C>A, XM_005271542.4:c.946C>G, XM_005271542.4:c.946C>T, XM_005271542.3:c.946C>A, XM_005271542.3:c.946C>G, XM_005271542.3:c.946C>T, XM_005271542.2:c.946C>A, XM_005271542.2:c.946C>G, XM_005271542.2:c.946C>T, XM_005271542.1:c.946C>A, XM_005271542.1:c.946C>G, XM_005271542.1:c.946C>T, XM_047426899.1:c.682C>A, XM_047426899.1:c.682C>G, XM_047426899.1:c.682C>T, NP_001646.2:p.His316Asn, NP_001646.2:p.His316Asp, NP_001646.2:p.His316Tyr, NP_001135753.1:p.His228Asn, NP_001135753.1:p.His228Asp, NP_001135753.1:p.His228Tyr, XP_005271599.1:p.His316Asn, XP_005271599.1:p.His316Asp, XP_005271599.1:p.His316Tyr, XP_047282855.1:p.His228Asn, XP_047282855.1:p.His228Asp, XP_047282855.1:p.His228Tyr

Select item 143329789711.

rs1433297897 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 11:118590446 (GRCh38)
11:118461161 (GRCh37)
Canonical SPDI:: NC_000011.10:118590445:C:A
Gene:: ARCN1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.118590446C>A, NC_000011.9:g.118461161C>A, NG_051953.1:g.23060C>A, NM_001655.5:c.924C>A, NM_001655.4:c.924C>A, NM_001142281.2:c.660C>A, NM_001142281.1:c.660C>A, NW_003871072.2:g.215884C>A, XM_005271542.5:c.924C>A, XM_005271542.4:c.924C>A, XM_005271542.3:c.924C>A, XM_005271542.2:c.924C>A, XM_005271542.1:c.924C>A, XM_047426899.1:c.660C>A, NP_001646.2:p.Asp308Glu, NP_001135753.1:p.Asp220Glu, XP_005271599.1:p.Asp308Glu, XP_047282855.1:p.Asp220Glu

Select item 140108736512.

rs1401087365 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:118590434 (GRCh38)
11:118461149 (GRCh37)
Canonical SPDI:: NC_000011.10:118590433:G:A
Gene:: ARCN1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000011.10:g.118590434G>A, NC_000011.9:g.118461149G>A, NG_051953.1:g.23048G>A, NM_001655.5:c.912G>A, NM_001655.4:c.912G>A, NM_001142281.2:c.648G>A, NM_001142281.1:c.648G>A, NW_003871072.2:g.215872G>A, XM_005271542.5:c.912G>A, XM_005271542.4:c.912G>A, XM_005271542.3:c.912G>A, XM_005271542.2:c.912G>A, XM_005271542.1:c.912G>A, XM_047426899.1:c.648G>A

Select item 139834424213.

rs1398344242 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:118593633 (GRCh38)
11:118464348 (GRCh37)
Canonical SPDI:: NC_000011.10:118593632:C:T
Gene:: ARCN1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.118593633C>T, NC_000011.9:g.118464348C>T, NG_051953.1:g.26247C>T, NM_001655.5:c.1176C>T, NM_001655.4:c.1176C>T, NM_001142281.2:c.912C>T, NM_001142281.1:c.912C>T, NW_003871072.2:g.219071C>T, XM_005271542.5:c.1176C>T, XM_005271542.4:c.1176C>T, XM_005271542.3:c.1176C>T, XM_005271542.2:c.1176C>T, XM_005271542.1:c.1176C>T, XM_047426899.1:c.912C>T

Select item 139607122314.

rs1396071223 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 11:118590431 (GRCh38)
11:118461146 (GRCh37)
Canonical SPDI:: NC_000011.10:118590430:T:G
Gene:: ARCN1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_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_000011.10:g.118590431T>G, NC_000011.9:g.118461146T>G, NG_051953.1:g.23045T>G, NM_001655.5:c.909T>G, NM_001655.4:c.909T>G, NM_001142281.2:c.645T>G, NM_001142281.1:c.645T>G, NW_003871072.2:g.215869T>G, XM_005271542.5:c.909T>G, XM_005271542.4:c.909T>G, XM_005271542.3:c.909T>G, XM_005271542.2:c.909T>G, XM_005271542.1:c.909T>G, XM_047426899.1:c.645T>G

Select item 139541381015.

rs1395413810 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:118600628 (GRCh38)
11:118471343 (GRCh37)
Canonical SPDI:: NC_000011.10:118600627:A:G
Gene:: ARCN1 (Varview)
Functional Consequence:: synonymous_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
HGVS:: NC_000011.10:g.118600628A>G, NC_000011.9:g.118471343A>G, NG_051953.1:g.33242A>G, NM_001655.5:c.1450A>G, NM_001655.4:c.1450A>G, NM_001142281.2:c.1186A>G, NM_001142281.1:c.1186A>G, NW_003871072.2:g.226066A>G, XM_005271542.5:c.1245A>G, XM_005271542.4:c.1245A>G, XM_005271542.3:c.1245A>G, XM_005271542.2:c.1245A>G, XM_005271542.1:c.1245A>G, XM_047426899.1:c.981A>G, NP_001646.2:p.Thr484Ala, NP_001135753.1:p.Thr396Ala

Select item 139361223916.

rs1393612239 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:118583971 (GRCh38)
11:118454686 (GRCh37)
Canonical SPDI:: NC_000011.10:118583970:A:G
Gene:: ARCN1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000011.10:g.118583971A>G, NC_000011.9:g.118454686A>G, NG_051953.1:g.16585A>G, NM_001655.5:c.610A>G, NM_001655.4:c.610A>G, NM_001142281.2:c.346A>G, NM_001142281.1:c.346A>G, NW_003871072.2:g.209409A>G, XM_005271542.5:c.610A>G, XM_005271542.4:c.610A>G, XM_005271542.3:c.610A>G, XM_005271542.2:c.610A>G, XM_005271542.1:c.610A>G, XM_047426899.1:c.346A>G, NP_001646.2:p.Ile204Val, NP_001135753.1:p.Ile116Val, XP_005271599.1:p.Ile204Val, XP_047282855.1:p.Ile116Val

Select item 139239852717.

rs1392398527 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:118590451 (GRCh38)
11:118461166 (GRCh37)
Canonical SPDI:: NC_000011.10:118590450:A:G
Gene:: ARCN1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.118590451A>G, NC_000011.9:g.118461166A>G, NG_051953.1:g.23065A>G, NM_001655.5:c.929A>G, NM_001655.4:c.929A>G, NM_001142281.2:c.665A>G, NM_001142281.1:c.665A>G, NW_003871072.2:g.215889A>G, XM_005271542.5:c.929A>G, XM_005271542.4:c.929A>G, XM_005271542.3:c.929A>G, XM_005271542.2:c.929A>G, XM_005271542.1:c.929A>G, XM_047426899.1:c.665A>G, NP_001646.2:p.Tyr310Cys, NP_001135753.1:p.Tyr222Cys, XP_005271599.1:p.Tyr310Cys, XP_047282855.1:p.Tyr222Cys

Select item 139099055318.

rs1390990553 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 11:118581332 (GRCh38)
11:118452047 (GRCh37)
Canonical SPDI:: NC_000011.10:118581331:G:C
Gene:: ARCN1 (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.118581332G>C, NC_000011.9:g.118452047G>C, NG_051953.1:g.13946G>C, NM_001655.5:c.90G>C, NM_001655.4:c.90G>C, NW_003871072.2:g.206770G>C, XM_005271542.5:c.90G>C, XM_005271542.4:c.90G>C, XM_005271542.3:c.90G>C, XM_005271542.2:c.90G>C, XM_005271542.1:c.90G>C, NP_001646.2:p.Glu30Asp, XP_005271599.1:p.Glu30Asp

Select item 138704833619.

rs1387048336 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:118597794 (GRCh38)
11:118468509 (GRCh37)
Canonical SPDI:: NC_000011.10:118597793:T:C
Gene:: ARCN1 (Varview)
Functional Consequence:: synonymous_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.118597794T>C, NC_000011.9:g.118468509T>C, NG_051953.1:g.30408T>C, NM_001655.5:c.1329T>C, NM_001655.4:c.1329T>C, NM_001142281.2:c.1065T>C, NM_001142281.1:c.1065T>C, NW_003871072.2:g.223232T>C

Select item 138087799420.

rs1380877994 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:118583209 (GRCh38)
11:118453924 (GRCh37)
Canonical SPDI:: NC_000011.10:118583208:A:G
Gene:: ARCN1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_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_000011.10:g.118583209A>G, NC_000011.9:g.118453924A>G, NG_051953.1:g.15823A>G, NM_001655.5:c.298A>G, NM_001655.4:c.298A>G, NM_001142281.2:c.34A>G, NM_001142281.1:c.34A>G, NW_003871072.2:g.208647A>G, XM_005271542.5:c.298A>G, XM_005271542.4:c.298A>G, XM_005271542.3:c.298A>G, XM_005271542.2:c.298A>G, XM_005271542.1:c.298A>G, XM_047426899.1:c.34A>G, NP_001646.2:p.Asn100Asp, NP_001135753.1:p.Asn12Asp, XP_005271599.1:p.Asn100Asp, XP_047282855.1:p.Asn12Asp

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