SNP Links for Protein (Select 40807500) - SNP

Select item 14850701871.

rs1485070187 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:173782126 (GRCh38)
1:173751264 (GRCh37)
Canonical SPDI:: NC_000001.11:173782125:T:C
Gene:: KLHL20 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,synonymous_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.173782126T>C, NC_000001.10:g.173751264T>C, NG_046985.1:g.72215T>C, NM_014458.4:c.1641T>C, NM_014458.3:c.1641T>C, XM_005245093.5:c.1641T>C, XM_005245093.4:c.1641T>C, XM_005245093.3:c.1641T>C, XM_005245093.2:c.1641T>C, XM_005245093.1:c.1641T>C, XM_017001052.2:c.1866T>C, XM_017001052.1:c.1866T>C, XM_017001053.2:c.1722T>C, XM_017001053.1:c.1722T>C, XM_024446468.2:c.1074T>C, XM_024446468.1:c.1074T>C, XM_024446472.2:c.1074T>C, XM_024446472.1:c.1074T>C, XM_047418030.1:c.1523T>C, XP_047273986.1:p.Leu508Ser

Select item 14828901072.

rs1482890107 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:173734017 (GRCh38)
1:173703156 (GRCh37)
Canonical SPDI:: NC_000001.11:173734016:G:A
Gene:: KLHL20 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
HGVS:: NC_000001.11:g.173734017G>A, NC_000001.10:g.173703156G>A, NG_046985.1:g.24106G>A, NM_014458.4:c.328G>A, NM_014458.3:c.328G>A, XM_005245093.5:c.328G>A, XM_005245093.4:c.328G>A, XM_005245093.3:c.328G>A, XM_005245093.2:c.328G>A, XM_005245093.1:c.328G>A, XM_017001052.2:c.553G>A, XM_017001052.1:c.553G>A, XM_017001053.2:c.553G>A, XM_017001053.1:c.553G>A, XM_047418029.1:c.553G>A, XM_047418030.1:c.553G>A, NP_055273.2:p.Val110Met, XP_005245150.1:p.Val110Met, XP_016856541.1:p.Val185Met, XP_016856542.1:p.Val185Met, XP_047273985.1:p.Val185Met, XP_047273986.1:p.Val185Met

Select item 14817547683.

rs1481754768 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:173734154 (GRCh38)
1:173703293 (GRCh37)
Canonical SPDI:: NC_000001.11:173734153:A:G
Gene:: KLHL20 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.173734154A>G, NC_000001.10:g.173703293A>G, NG_046985.1:g.24243A>G, NM_014458.4:c.465A>G, NM_014458.3:c.465A>G, XM_005245093.5:c.465A>G, XM_005245093.4:c.465A>G, XM_005245093.3:c.465A>G, XM_005245093.2:c.465A>G, XM_005245093.1:c.465A>G, XM_017001052.2:c.690A>G, XM_017001052.1:c.690A>G, XM_017001053.2:c.690A>G, XM_017001053.1:c.690A>G, XM_047418029.1:c.690A>G, XM_047418030.1:c.690A>G

Select item 14815743844.

rs1481574384 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:173785176 (GRCh38)
1:173754314 (GRCh37)
Canonical SPDI:: NC_000001.11:173785175:A:G
Gene:: KLHL20 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
HGVS:: NC_000001.11:g.173785176A>G, NC_000001.10:g.173754314A>G, NG_046985.1:g.75265A>G, NM_014458.4:c.1759A>G, NM_014458.3:c.1759A>G, XM_005245093.5:c.1759A>G, XM_005245093.4:c.1759A>G, XM_005245093.3:c.1759A>G, XM_005245093.2:c.1759A>G, XM_005245093.1:c.1759A>G, XM_017001052.2:c.1984A>G, XM_017001052.1:c.1984A>G, XM_017001053.2:c.1840A>G, XM_017001053.1:c.1840A>G, XM_024446468.2:c.1192A>G, XM_024446468.1:c.1192A>G, XM_024446472.2:c.1192A>G, XM_024446472.1:c.1192A>G, NP_055273.2:p.Met587Val, XP_005245150.1:p.Met587Val, XP_016856541.1:p.Met662Val, XP_016856542.1:p.Met614Val, XP_024302236.1:p.Met398Val, XP_024302240.1:p.Met398Val

Select item 14800416145.

rs1480041614 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:173775704 (GRCh38)
1:173744843 (GRCh37)
Canonical SPDI:: NC_000001.11:173775703:A:G
Gene:: KLHL20 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,synonymous_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000011/3 (TOPMED)
G=0.000021/3 (GnomAD)
HGVS:: NC_000001.11:g.173775704A>G, NC_000001.10:g.173744843A>G, NG_046985.1:g.65793A>G, NM_014458.4:c.1500A>G, NM_014458.3:c.1500A>G, XM_005245093.5:c.1500A>G, XM_005245093.4:c.1500A>G, XM_005245093.3:c.1500A>G, XM_005245093.2:c.1500A>G, XM_005245093.1:c.1500A>G, XM_017001052.2:c.1725A>G, XM_017001052.1:c.1725A>G, XM_017001053.2:c.1581A>G, XM_017001053.1:c.1581A>G, XM_024446468.2:c.933A>G, XM_024446468.1:c.933A>G, XM_024446472.2:c.933A>G, XM_024446472.1:c.933A>G, XM_047418029.1:c.1591A>G, XP_047273985.1:p.Arg531Gly

Select item 14792736956.

rs1479273695 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 1:173734055 (GRCh38)
1:173703194 (GRCh37)
Canonical SPDI:: NC_000001.11:173734054:G:C
Gene:: KLHL20 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.173734055G>C, NC_000001.10:g.173703194G>C, NG_046985.1:g.24144G>C, NM_014458.4:c.366G>C, NM_014458.3:c.366G>C, XM_005245093.5:c.366G>C, XM_005245093.4:c.366G>C, XM_005245093.3:c.366G>C, XM_005245093.2:c.366G>C, XM_005245093.1:c.366G>C, XM_017001052.2:c.591G>C, XM_017001052.1:c.591G>C, XM_017001053.2:c.591G>C, XM_017001053.1:c.591G>C, XM_047418029.1:c.591G>C, XM_047418030.1:c.591G>C

Select item 14783297667.

rs1478329766 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:173733892 (GRCh38)
1:173703031 (GRCh37)
Canonical SPDI:: NC_000001.11:173733891:G:A
Gene:: KLHL20 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_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_000001.11:g.173733892G>A, NC_000001.10:g.173703031G>A, NG_046985.1:g.23981G>A, NM_014458.4:c.203G>A, NM_014458.3:c.203G>A, XM_005245093.5:c.203G>A, XM_005245093.4:c.203G>A, XM_005245093.3:c.203G>A, XM_005245093.2:c.203G>A, XM_005245093.1:c.203G>A, XM_017001052.2:c.428G>A, XM_017001052.1:c.428G>A, XM_017001053.2:c.428G>A, XM_017001053.1:c.428G>A, XM_047418029.1:c.428G>A, XM_047418030.1:c.428G>A, NP_055273.2:p.Cys68Tyr, XP_005245150.1:p.Cys68Tyr, XP_016856541.1:p.Cys143Tyr, XP_016856542.1:p.Cys143Tyr, XP_047273985.1:p.Cys143Tyr, XP_047273986.1:p.Cys143Tyr

Select item 14777291808.

rs1477729180 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:173751816 (GRCh38)
1:173720955 (GRCh37)
Canonical SPDI:: NC_000001.11:173751815:T:C
Gene:: KLHL20 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0./0 (GnomAD)
C=0.000008/2 (TOPMED)
C=0.000035/1 (TOMMO)
HGVS:: NC_000001.11:g.173751816T>C, NC_000001.10:g.173720955T>C, NG_046985.1:g.41905T>C, NM_014458.4:c.650T>C, NM_014458.3:c.650T>C, XM_005245093.5:c.650T>C, XM_005245093.4:c.650T>C, XM_005245093.3:c.650T>C, XM_005245093.2:c.650T>C, XM_005245093.1:c.650T>C, XM_017001052.2:c.875T>C, XM_017001052.1:c.875T>C, XM_017001053.2:c.875T>C, XM_017001053.1:c.875T>C, XM_024446468.2:c.83T>C, XM_024446468.1:c.83T>C, XM_024446472.2:c.83T>C, XM_024446472.1:c.83T>C, XM_047418029.1:c.875T>C, XM_047418030.1:c.875T>C, NP_055273.2:p.Ile217Thr, XP_005245150.1:p.Ile217Thr, XP_016856541.1:p.Ile292Thr, XP_016856542.1:p.Ile292Thr, XP_024302236.1:p.Ile28Thr, XP_024302240.1:p.Ile28Thr, XP_047273985.1:p.Ile292Thr, XP_047273986.1:p.Ile292Thr

Select item 14754845699.

rs1475484569 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 1:173775757 (GRCh38)
1:173744896 (GRCh37)
Canonical SPDI:: NC_000001.11:173775756:C:A
Gene:: KLHL20 (Varview)
Functional Consequence:: missense_variant,3_prime_UTR_variant,coding_sequence_variant,intron_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.173775757C>A, NC_000001.10:g.173744896C>A, NG_046985.1:g.65846C>A, NM_014458.4:c.1553C>A, NM_014458.3:c.1553C>A, XM_005245093.5:c.1553C>A, XM_005245093.4:c.1553C>A, XM_005245093.3:c.1553C>A, XM_005245093.2:c.1553C>A, XM_005245093.1:c.1553C>A, XM_017001052.2:c.1778C>A, XM_017001052.1:c.1778C>A, XM_017001053.2:c.1634C>A, XM_017001053.1:c.1634C>A, XM_024446468.2:c.986C>A, XM_024446468.1:c.986C>A, XM_024446472.2:c.986C>A, XM_024446472.1:c.986C>A, XM_047418029.1:c.*9C>A, NP_055273.2:p.Thr518Asn, XP_005245150.1:p.Thr518Asn, XP_016856541.1:p.Thr593Asn, XP_016856542.1:p.Thr545Asn, XP_024302236.1:p.Thr329Asn, XP_024302240.1:p.Thr329Asn

Select item 147328264610.

rs1473282646 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 1:173733817 (GRCh38)
1:173702956 (GRCh37)
Canonical SPDI:: NC_000001.11:173733816:T:A
Gene:: KLHL20 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.173733817T>A, NC_000001.10:g.173702956T>A, NG_046985.1:g.23906T>A, NM_014458.4:c.128T>A, NM_014458.3:c.128T>A, XM_005245093.5:c.128T>A, XM_005245093.4:c.128T>A, XM_005245093.3:c.128T>A, XM_005245093.2:c.128T>A, XM_005245093.1:c.128T>A, XM_017001052.2:c.353T>A, XM_017001052.1:c.353T>A, XM_017001053.2:c.353T>A, XM_017001053.1:c.353T>A, XM_047418029.1:c.353T>A, XM_047418030.1:c.353T>A, NP_055273.2:p.Met43Lys, XP_005245150.1:p.Met43Lys, XP_016856541.1:p.Met118Lys, XP_016856542.1:p.Met118Lys, XP_047273985.1:p.Met118Lys, XP_047273986.1:p.Met118Lys

Select item 147237331311.

rs1472373313 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 1:173733899 (GRCh38)
1:173703038 (GRCh37)
Canonical SPDI:: NC_000001.11:173733898:G:A,NC_000001.11:173733898:G:T
Gene:: KLHL20 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.173733899G>A, NC_000001.11:g.173733899G>T, NC_000001.10:g.173703038G>A, NC_000001.10:g.173703038G>T, NG_046985.1:g.23988G>A, NG_046985.1:g.23988G>T, NM_014458.4:c.210G>A, NM_014458.4:c.210G>T, NM_014458.3:c.210G>A, NM_014458.3:c.210G>T, XM_005245093.5:c.210G>A, XM_005245093.5:c.210G>T, XM_005245093.4:c.210G>A, XM_005245093.4:c.210G>T, XM_005245093.3:c.210G>A, XM_005245093.3:c.210G>T, XM_005245093.2:c.210G>A, XM_005245093.2:c.210G>T, XM_005245093.1:c.210G>A, XM_005245093.1:c.210G>T, XM_017001052.2:c.435G>A, XM_017001052.2:c.435G>T, XM_017001052.1:c.435G>A, XM_017001052.1:c.435G>T, XM_017001053.2:c.435G>A, XM_017001053.2:c.435G>T, XM_017001053.1:c.435G>A, XM_017001053.1:c.435G>T, XM_047418029.1:c.435G>A, XM_047418029.1:c.435G>T, XM_047418030.1:c.435G>A, XM_047418030.1:c.435G>T

Select item 147005389412.

rs1470053894 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:173775733 (GRCh38)
1:173744872 (GRCh37)
Canonical SPDI:: NC_000001.11:173775732:A:G
Gene:: KLHL20 (Varview)
Functional Consequence:: synonymous_variant,missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.173775733A>G, NC_000001.10:g.173744872A>G, NG_046985.1:g.65822A>G, NM_014458.4:c.1529A>G, NM_014458.3:c.1529A>G, XM_005245093.5:c.1529A>G, XM_005245093.4:c.1529A>G, XM_005245093.3:c.1529A>G, XM_005245093.2:c.1529A>G, XM_005245093.1:c.1529A>G, XM_017001052.2:c.1754A>G, XM_017001052.1:c.1754A>G, XM_017001053.2:c.1610A>G, XM_017001053.1:c.1610A>G, XM_024446468.2:c.962A>G, XM_024446468.1:c.962A>G, XM_024446472.2:c.962A>G, XM_024446472.1:c.962A>G, XM_047418029.1:c.1620A>G, NP_055273.2:p.Tyr510Cys, XP_005245150.1:p.Tyr510Cys, XP_016856541.1:p.Tyr585Cys, XP_016856542.1:p.Tyr537Cys, XP_024302236.1:p.Tyr321Cys, XP_024302240.1:p.Tyr321Cys

Select item 146914163013.

rs1469141630 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 1:173766284 (GRCh38)
1:173735423 (GRCh37)
Canonical SPDI:: NC_000001.11:173766283:T:C,NC_000001.11:173766283:T:G
Gene:: KLHL20 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000066/1 (ALFA)
C=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
G=0.000223/1 (Estonian)
HGVS:: NC_000001.11:g.173766284T>C, NC_000001.11:g.173766284T>G, NC_000001.10:g.173735423T>C, NC_000001.10:g.173735423T>G, NG_046985.1:g.56373T>C, NG_046985.1:g.56373T>G, NM_014458.4:c.1290T>C, NM_014458.4:c.1290T>G, NM_014458.3:c.1290T>C, NM_014458.3:c.1290T>G, XM_005245093.5:c.1290T>C, XM_005245093.5:c.1290T>G, XM_005245093.4:c.1290T>C, XM_005245093.4:c.1290T>G, XM_005245093.3:c.1290T>C, XM_005245093.3:c.1290T>G, XM_005245093.2:c.1290T>C, XM_005245093.2:c.1290T>G, XM_005245093.1:c.1290T>C, XM_005245093.1:c.1290T>G, XM_017001052.2:c.1515T>C, XM_017001052.2:c.1515T>G, XM_017001052.1:c.1515T>C, XM_017001052.1:c.1515T>G, XM_024446468.2:c.723T>C, XM_024446468.2:c.723T>G, XM_024446468.1:c.723T>C, XM_024446468.1:c.723T>G, XM_024446472.2:c.723T>C, XM_024446472.2:c.723T>G, XM_024446472.1:c.723T>C, XM_024446472.1:c.723T>G, XM_047418029.1:c.1515T>C, XM_047418029.1:c.1515T>G, XM_047418030.1:c.1515T>C, XM_047418030.1:c.1515T>G

Select item 146646247714.

rs1466462477 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 1:173782142 (GRCh38)
1:173751280 (GRCh37)
Canonical SPDI:: NC_000001.11:173782141:A:T
Gene:: KLHL20 (Varview)
Functional Consequence:: synonymous_variant,missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
T=0.000019/5 (TOPMED)
HGVS:: NC_000001.11:g.173782142A>T, NC_000001.10:g.173751280A>T, NG_046985.1:g.72231A>T, NM_014458.4:c.1657A>T, NM_014458.3:c.1657A>T, XM_005245093.5:c.1657A>T, XM_005245093.4:c.1657A>T, XM_005245093.3:c.1657A>T, XM_005245093.2:c.1657A>T, XM_005245093.1:c.1657A>T, XM_017001052.2:c.1882A>T, XM_017001052.1:c.1882A>T, XM_017001053.2:c.1738A>T, XM_017001053.1:c.1738A>T, XM_024446468.2:c.1090A>T, XM_024446468.1:c.1090A>T, XM_024446472.2:c.1090A>T, XM_024446472.1:c.1090A>T, XM_047418030.1:c.1539A>T, NP_055273.2:p.Asn553Tyr, XP_005245150.1:p.Asn553Tyr, XP_016856541.1:p.Asn628Tyr, XP_016856542.1:p.Asn580Tyr, XP_024302236.1:p.Asn364Tyr, XP_024302240.1:p.Asn364Tyr

Select item 146565797615.

rs1465657976 [Homo sapiens]

Variant type:: INS
Alleles:: ->ATC [Show Flanks]
Chromosome:: 1:173757137 (GRCh38)
1:173726277 (GRCh37)
Canonical SPDI:: NC_000001.11:173757137::ATC
Gene:: KLHL20 (Varview)
Functional Consequence:: inframe_indel,coding_sequence_variant
HGVS:: NC_000001.11:g.173757137_173757138insATC, NC_000001.10:g.173726276_173726277insATC, NG_046985.1:g.47226_47227insATC, NM_014458.4:c.1129_1130insATC, NM_014458.3:c.1129_1130insATC, XM_005245093.5:c.1129_1130insATC, XM_005245093.4:c.1129_1130insATC, XM_005245093.3:c.1129_1130insATC, XM_005245093.2:c.1129_1130insATC, XM_005245093.1:c.1129_1130insATC, XM_017001052.2:c.1354_1355insATC, XM_017001052.1:c.1354_1355insATC, XM_017001053.2:c.1354_1355insATC, XM_017001053.1:c.1354_1355insATC, XM_024446468.2:c.562_563insATC, XM_024446468.1:c.562_563insATC, XM_024446472.2:c.562_563insATC, XM_024446472.1:c.562_563insATC, XM_047418029.1:c.1354_1355insATC, XM_047418030.1:c.1354_1355insATC, NP_055273.2:p.Ser377delinsTyrPro, XP_005245150.1:p.Ser377delinsTyrPro, XP_016856541.1:p.Ser452delinsTyrPro, XP_016856542.1:p.Ser452delinsTyrPro, XP_024302236.1:p.Ser188delinsTyrPro, XP_024302240.1:p.Ser188delinsTyrPro, XP_047273985.1:p.Ser452delinsTyrPro, XP_047273986.1:p.Ser452delinsTyrPro

Select item 146429716116.

rs1464297161 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:173774325 (GRCh38)
1:173743464 (GRCh37)
Canonical SPDI:: NC_000001.11:173774324:A:G
Gene:: KLHL20 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.173774325A>G, NC_000001.10:g.173743464A>G, NG_046985.1:g.64414A>G, NM_014458.4:c.1316A>G, NM_014458.3:c.1316A>G, XM_005245093.5:c.1316A>G, XM_005245093.4:c.1316A>G, XM_005245093.3:c.1316A>G, XM_005245093.2:c.1316A>G, XM_005245093.1:c.1316A>G, XM_017001052.2:c.1541A>G, XM_017001052.1:c.1541A>G, XM_017001053.2:c.1397A>G, XM_017001053.1:c.1397A>G, XM_024446468.2:c.749A>G, XM_024446468.1:c.749A>G, XM_024446472.2:c.749A>G, XM_024446472.1:c.749A>G, NP_055273.2:p.Lys439Arg, XP_005245150.1:p.Lys439Arg, XP_016856541.1:p.Lys514Arg, XP_016856542.1:p.Lys466Arg, XP_024302236.1:p.Lys250Arg, XP_024302240.1:p.Lys250Arg

Select item 146352921317.

rs1463529213 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:173766264 (GRCh38)
1:173735403 (GRCh37)
Canonical SPDI:: NC_000001.11:173766263:G:A
Gene:: KLHL20 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
HGVS:: NC_000001.11:g.173766264G>A, NC_000001.10:g.173735403G>A, NG_046985.1:g.56353G>A, NM_014458.4:c.1270G>A, NM_014458.3:c.1270G>A, XM_005245093.5:c.1270G>A, XM_005245093.4:c.1270G>A, XM_005245093.3:c.1270G>A, XM_005245093.2:c.1270G>A, XM_005245093.1:c.1270G>A, XM_017001052.2:c.1495G>A, XM_017001052.1:c.1495G>A, XM_024446468.2:c.703G>A, XM_024446468.1:c.703G>A, XM_024446472.2:c.703G>A, XM_024446472.1:c.703G>A, XM_047418029.1:c.1495G>A, XM_047418030.1:c.1495G>A, NP_055273.2:p.Val424Met, XP_005245150.1:p.Val424Met, XP_016856541.1:p.Val499Met, XP_024302236.1:p.Val235Met, XP_024302240.1:p.Val235Met, XP_047273985.1:p.Val499Met, XP_047273986.1:p.Val499Met

Select item 146132057518.

rs1461320575 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:173716050 (GRCh38)
1:173685189 (GRCh37)
Canonical SPDI:: NC_000001.11:173716049:G:A
Gene:: KLHL20 (Varview), ANKRD45 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.173716050G>A, NC_000001.10:g.173685189G>A, NG_046985.1:g.6139G>A, NM_014458.4:c.7G>A, NM_014458.3:c.7G>A, XM_005245093.5:c.7G>A, XM_005245093.4:c.7G>A, XM_005245093.3:c.7G>A, XM_005245093.2:c.7G>A, XM_005245093.1:c.7G>A, XM_017001052.2:c.232G>A, XM_017001052.1:c.232G>A, XM_017001053.2:c.232G>A, XM_017001053.1:c.232G>A, XM_024446468.2:c.14G>A, XM_024446468.1:c.14G>A, XM_024446472.2:c.14G>A, XM_024446472.1:c.14G>A, XM_047418029.1:c.232G>A, XM_047418030.1:c.232G>A, NP_055273.2:p.Gly3Arg, XP_005245150.1:p.Gly3Arg, XP_016856541.1:p.Gly78Arg, XP_016856542.1:p.Gly78Arg, XP_024302236.1:p.Arg5Lys, XP_024302240.1:p.Arg5Lys, XP_047273985.1:p.Gly78Arg, XP_047273986.1:p.Gly78Arg

Select item 145680907719.

rs1456809077 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:173733824 (GRCh38)
1:173702963 (GRCh37)
Canonical SPDI:: NC_000001.11:173733823:T:C
Gene:: KLHL20 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,synonymous_variant
Validated:: by frequency
MAF:: C=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000001.11:g.173733824T>C, NC_000001.10:g.173702963T>C, NG_046985.1:g.23913T>C, NM_014458.4:c.135T>C, NM_014458.3:c.135T>C, XM_005245093.5:c.135T>C, XM_005245093.4:c.135T>C, XM_005245093.3:c.135T>C, XM_005245093.2:c.135T>C, XM_005245093.1:c.135T>C, XM_017001052.2:c.360T>C, XM_017001052.1:c.360T>C, XM_017001053.2:c.360T>C, XM_017001053.1:c.360T>C, XM_047418029.1:c.360T>C, XM_047418030.1:c.360T>C

Select item 145668580220.

rs1456685802 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:173757082 (GRCh38)
1:173726221 (GRCh37)
Canonical SPDI:: NC_000001.11:173757081:T:C
Gene:: KLHL20 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_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_000001.11:g.173757082T>C, NC_000001.10:g.173726221T>C, NG_046985.1:g.47171T>C, NM_014458.4:c.1074T>C, NM_014458.3:c.1074T>C, XM_005245093.5:c.1074T>C, XM_005245093.4:c.1074T>C, XM_005245093.3:c.1074T>C, XM_005245093.2:c.1074T>C, XM_005245093.1:c.1074T>C, XM_017001052.2:c.1299T>C, XM_017001052.1:c.1299T>C, XM_017001053.2:c.1299T>C, XM_017001053.1:c.1299T>C, XM_024446468.2:c.507T>C, XM_024446468.1:c.507T>C, XM_024446472.2:c.507T>C, XM_024446472.1:c.507T>C, XM_047418029.1:c.1299T>C, XM_047418030.1:c.1299T>C

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Result Filters

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Items: 1 to 20 of 408

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