Canonical Allele Identifier: CA1193167

Gene: KCNJ10

Linked Data

• dbSNP Id: rs748553015
• ExAC: 1:160011274 C / T
• gnomAD v2: 1-160011274-C-T
• gnomAD v4: 1-160041484-C-T
• COSMIC: COSM3476712 ; COSM3476713
• MyVariant Identifiers: chr1:g.160011274C>T (hg19) ; chr1:g.160041484C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.160041484C>T , CM000663.2:g.160041484C>T	GRCh38
NC_000001.10:g.160011274C>T , CM000663.1:g.160011274C>T	GRCh37
NC_000001.9:g.158277898C>T	NCBI36
NG_016411.1:g.33688G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000509700.2:c.671+350G>A
ENST00000636689.1:n.95-2136G>A
ENST00000637644.1:c.487+562G>A	ENSP00000490282.1:n.487+562G>A
ENST00000638728.1:c.1049G>A	ENSP00000492619.1:p.Gly350Glu
ENST00000638840.1:c.771G>A
ENST00000638868.1:c.1049G>A	ENSP00000491250.1:p.Gly350Glu
ENST00000639408.1:c.487+562G>A	ENSP00000491635.1:n.487+562G>A
ENST00000640017.1:c.669+350G>A	ENSP00000491337.1:n.669+350G>A
ENST00000640914.1:c.124+350G>A
ENST00000644903.1:c.1049G>A MANE Select	ENSP00000495557.1:p.Gly350Glu
ENST00000368089.3:c.1049G>A	ENSP00000357068.3:p.Gly350Glu
ENST00000509700.1:n.462+350G>A
NM_002241.4:c.1049G>A	NP_002232.2:p.Gly350Glu
NM_002241.5:c.1049G>A MANE Select	NP_002232.2:p.Gly350Glu