Canonical Allele Identifier: CA1193169

Gene: KCNJ10

Linked Data

• ClinVar Variation Id: 875494
• ClinVar RCV Id: RCV001099390 ; RCV001099389 ; RCV002402496
• dbSNP Id: rs368537434
• ExAC: 1:160011276 G / A
• gnomAD v2: 1-160011276-G-A
• gnomAD v3: 1-160041486-G-A
• gnomAD v4: 1-160041486-G-A
• COSMIC: COSM4024043 ; COSM4024044
• MyVariant Identifiers: chr1:g.160011276G>A (hg19) ; chr1:g.160041486G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.160041486G>A , CM000663.2:g.160041486G>A	GRCh38
NC_000001.10:g.160011276G>A , CM000663.1:g.160011276G>A	GRCh37
NC_000001.9:g.158277900G>A	NCBI36
NG_016411.1:g.33686C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000509700.2:c.671+348C>T
ENST00000636689.1:n.95-2138C>T
ENST00000637644.1:c.487+560C>T	ENSP00000490282.1:n.487+560C>T
ENST00000638728.1:c.1047C>T	ENSP00000492619.1:p.Tyr349=
ENST00000638840.1:c.769C>T
ENST00000638868.1:c.1047C>T	ENSP00000491250.1:p.Tyr349=
ENST00000639408.1:c.487+560C>T	ENSP00000491635.1:n.487+560C>T
ENST00000640017.1:c.669+348C>T	ENSP00000491337.1:n.669+348C>T
ENST00000640914.1:c.124+348C>T
ENST00000644903.1:c.1047C>T MANE Select	ENSP00000495557.1:p.Tyr349=
ENST00000368089.3:c.1047C>T	ENSP00000357068.3:p.Tyr349=
ENST00000509700.1:n.462+348C>T
NM_002241.4:c.1047C>T	NP_002232.2:p.Tyr349=
NM_002241.5:c.1047C>T MANE Select	NP_002232.2:p.Tyr349=