Canonical Allele Identifier: CA343222953

Gene: KCNJ10

Linked Data

• dbSNP Id: rs1467275201
• gnomAD v2: 1-160011332-C-G
• COSMIC: COSM5631402 ; COSM5631403
• MyVariant Identifiers: chr1:g.160011332C>G (hg19) ; chr1:g.160041542C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.160041542C>G , CM000663.2:g.160041542C>G	GRCh38
NC_000001.10:g.160011332C>G , CM000663.1:g.160011332C>G	GRCh37
NC_000001.9:g.158277956C>G	NCBI36
NG_016411.1:g.33630G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000509700.2:c.671+292G>C
ENST00000636689.1:n.95-2194G>C
ENST00000637644.1:c.487+504G>C	ENSP00000490282.1:n.487+504G>C
ENST00000638728.1:c.991G>C	ENSP00000492619.1:p.Asp331His
ENST00000638840.1:c.713G>C
ENST00000638868.1:c.991G>C	ENSP00000491250.1:p.Asp331His
ENST00000639408.1:c.487+504G>C	ENSP00000491635.1:n.487+504G>C
ENST00000640017.1:c.669+292G>C	ENSP00000491337.1:n.669+292G>C
ENST00000640914.1:c.124+292G>C
ENST00000644903.1:c.991G>C MANE Select	ENSP00000495557.1:p.Asp331His
ENST00000368089.3:c.991G>C	ENSP00000357068.3:p.Asp331His
ENST00000509700.1:n.462+292G>C
NM_002241.4:c.991G>C	NP_002232.2:p.Asp331His
NM_002241.5:c.991G>C MANE Select	NP_002232.2:p.Asp331His