Canonical Allele Identifier: CA1193156

Gene: KCNJ10

Linked Data

• ClinVar Variation Id: 411157
• ClinVar RCV Id: RCV002313178
• dbSNP Id: rs189596680
• ExAC: 1:160011199 C / T
• gnomAD v2: 1-160011199-C-T
• gnomAD v3: 1-160041409-C-T
• gnomAD v4: 1-160041409-C-T
• MyVariant Identifiers: chr1:g.160011199C>T (hg19) ; chr1:g.160041409C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.160041409C>T , CM000663.2:g.160041409C>T	GRCh38
NC_000001.10:g.160011199C>T , CM000663.1:g.160011199C>T	GRCh37
NC_000001.9:g.158277823C>T	NCBI36
NG_016411.1:g.33763G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000509700.2:c.671+425G>A
ENST00000636689.1:n.95-2061G>A
ENST00000637644.1:c.487+637G>A	ENSP00000490282.1:n.487+637G>A
ENST00000638728.1:c.1124G>A	ENSP00000492619.1:p.Arg375His
ENST00000638840.1:c.846G>A
ENST00000638868.1:c.1124G>A	ENSP00000491250.1:p.Arg375His
ENST00000639408.1:c.487+637G>A	ENSP00000491635.1:n.487+637G>A
ENST00000640017.1:c.669+425G>A	ENSP00000491337.1:n.669+425G>A
ENST00000640914.1:c.124+425G>A
ENST00000644903.1:c.1124G>A MANE Select	ENSP00000495557.1:p.Arg375His
ENST00000368089.3:c.1124G>A	ENSP00000357068.3:p.Arg375His
ENST00000509700.1:n.462+425G>A
NM_002241.4:c.1124G>A	NP_002232.2:p.Arg375His
NM_002241.5:c.1124G>A MANE Select	NP_002232.2:p.Arg375His