Canonical Allele Identifier: CA118808

Gene: KCNJ10

Linked Data

• ClinVar Variation Id: 7463
• ClinVar RCV Id: RCV000007889 ; RCV002496303 ; RCV003128569
• dbSNP Id: rs137853067
• gnomAD v4: 1-160041938-G-A
• MyVariant Identifiers: chr1:g.160011728G>A (hg19) ; chr1:g.160041938G>A (hg38)
• PubMed: PMID:19289823 ; PMID:20651251

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.160041938G>A , CM000663.2:g.160041938G>A	GRCh38
NC_000001.10:g.160011728G>A , CM000663.1:g.160011728G>A	GRCh37
NC_000001.9:g.158278352G>A	NCBI36
NG_016411.1:g.33234C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000509700.2:c.567C>T
ENST00000636689.1:n.95-2590C>T
ENST00000637644.1:c.487+108C>T	ENSP00000490282.1:n.487+108C>T
ENST00000638728.1:c.595C>T	ENSP00000492619.1:p.Arg199Ter
ENST00000638840.1:c.317C>T
ENST00000638868.1:c.595C>T	ENSP00000491250.1:p.Arg199Ter
ENST00000639408.1:c.487+108C>T	ENSP00000491635.1:n.487+108C>T
ENST00000640017.1:c.565C>T	ENSP00000491337.1:p.Arg189Ter
ENST00000640914.1:c.20C>T
ENST00000644903.1:c.595C>T MANE Select	ENSP00000495557.1:p.Arg199Ter
ENST00000368089.3:c.595C>T	ENSP00000357068.3:p.Arg199Ter
ENST00000509700.1:n.358C>T
NM_002241.4:c.595C>T	NP_002232.2:p.Arg199Ter
NM_002241.5:c.595C>T MANE Select	NP_002232.2:p.Arg199Ter