Canonical Allele Identifier: CA1193173

Gene: KCNJ10

Linked Data

• ClinVar Variation Id: 1007194
• ClinVar RCV Id: RCV001304339 ; RCV002393722
• dbSNP Id: rs752571720
• ExAC: 1:160011290 T / C
• gnomAD v2: 1-160011290-T-C
• gnomAD v3: 1-160041500-T-C
• gnomAD v4: 1-160041500-T-C
• MyVariant Identifiers: chr1:g.160011290T>C (hg19) ; chr1:g.160041500T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.160041500T>C , CM000663.2:g.160041500T>C	GRCh38
NC_000001.10:g.160011290T>C , CM000663.1:g.160011290T>C	GRCh37
NC_000001.9:g.158277914T>C	NCBI36
NG_016411.1:g.33672A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000509700.2:c.671+334A>G
ENST00000636689.1:n.95-2152A>G
ENST00000637644.1:c.487+546A>G	ENSP00000490282.1:n.487+546A>G
ENST00000638728.1:c.1033A>G	ENSP00000492619.1:p.Ser345Gly
ENST00000638840.1:c.755A>G
ENST00000638868.1:c.1033A>G	ENSP00000491250.1:p.Ser345Gly
ENST00000639408.1:c.487+546A>G	ENSP00000491635.1:n.487+546A>G
ENST00000640017.1:c.669+334A>G	ENSP00000491337.1:n.669+334A>G
ENST00000640914.1:c.124+334A>G
ENST00000644903.1:c.1033A>G MANE Select	ENSP00000495557.1:p.Ser345Gly
ENST00000368089.3:c.1033A>G	ENSP00000357068.3:p.Ser345Gly
ENST00000509700.1:n.462+334A>G
NM_002241.4:c.1033A>G	NP_002232.2:p.Ser345Gly
NM_002241.5:c.1033A>G MANE Select	NP_002232.2:p.Ser345Gly