Canonical Allele Identifier: CA288918

Gene: KCNJ10

Linked Data

• ClinVar Variation Id: 129318
• ClinVar RCV Id: RCV000117321 ; RCV000548825 ; RCV001099392 ; RCV001704023 ; RCV002313893
• dbSNP Id: rs3795339
• ExAC: 1:160011511 C / T
• gnomAD v2: 1-160011511-C-T
• gnomAD v3: 1-160041721-C-T
• gnomAD v4: 1-160041721-C-T
• COSMIC: COSM3677421 ; COSM3677422
• MyVariant Identifiers: chr1:g.160011511C>T (hg19) ; chr1:g.160041721C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.160041721C>T , CM000663.2:g.160041721C>T	GRCh38
NC_000001.10:g.160011511C>T , CM000663.1:g.160011511C>T	GRCh37
NC_000001.9:g.158278135C>T	NCBI36
NG_016411.1:g.33451G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000509700.2:c.671+113G>A
ENST00000636689.1:n.95-2373G>A
ENST00000637644.1:c.487+325G>A	ENSP00000490282.1:n.487+325G>A
ENST00000638728.1:c.812G>A	ENSP00000492619.1:p.Arg271His
ENST00000638840.1:c.534G>A
ENST00000638868.1:c.812G>A	ENSP00000491250.1:p.Arg271His
ENST00000639408.1:c.487+325G>A	ENSP00000491635.1:n.487+325G>A
ENST00000640017.1:c.669+113G>A	ENSP00000491337.1:n.669+113G>A
ENST00000640914.1:c.124+113G>A
ENST00000644903.1:c.812G>A MANE Select	ENSP00000495557.1:p.Arg271His
ENST00000368089.3:c.812G>A	ENSP00000357068.3:p.Arg271His
ENST00000509700.1:n.462+113G>A
NM_002241.4:c.812G>A	NP_002232.2:p.Arg271His
NM_002241.5:c.812G>A MANE Select	NP_002232.2:p.Arg271His