Canonical Allele Identifier: CA31470104

Gene: KCNJ10

Linked Data

• ClinVar Variation Id: 954341
• ClinVar RCV Id: RCV001226782
• dbSNP Id: rs748553015
• gnomAD v4: 1-160041484-C-G
• MyVariant Identifiers: chr1:g.160011274C>G (hg19) ; chr1:g.160041484C>G (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000509700.2:c.671+350G>C
ENST00000636689.1:n.95-2136G>C
ENST00000637644.1:c.487+562G>C	ENSP00000490282.1:n.487+562G>C
ENST00000638728.1:c.1049G>C	ENSP00000492619.1:p.Gly350Ala
ENST00000638840.1:c.771G>C
ENST00000638868.1:c.1049G>C	ENSP00000491250.1:p.Gly350Ala
ENST00000639408.1:c.487+562G>C	ENSP00000491635.1:n.487+562G>C
ENST00000640017.1:c.669+350G>C	ENSP00000491337.1:n.669+350G>C
ENST00000640914.1:c.124+350G>C
ENST00000644903.1:c.1049G>C MANE Select	ENSP00000495557.1:p.Gly350Ala
ENST00000368089.3:c.1049G>C	ENSP00000357068.3:p.Gly350Ala
ENST00000509700.1:n.462+350G>C
NM_002241.4:c.1049G>C	NP_002232.2:p.Gly350Ala
NM_002241.5:c.1049G>C MANE Select	NP_002232.2:p.Gly350Ala