Canonical Allele Identifier: CA1193166

Gene: KCNJ10

Linked Data

• ClinVar Variation Id: 451985
• ClinVar RCV Id: RCV000522945 ; RCV000764988 ; RCV001252024 ; RCV001489554
• dbSNP Id: rs373899425
• ExAC: 1:160011272 C / T
• gnomAD v2: 1-160011272-C-T
• gnomAD v3: 1-160041482-C-T
• gnomAD v4: 1-160041482-C-T
• MyVariant Identifiers: chr1:g.160011272C>T (hg19) ; chr1:g.160041482C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.160041482C>T , CM000663.2:g.160041482C>T	GRCh38
NC_000001.10:g.160011272C>T , CM000663.1:g.160011272C>T	GRCh37
NC_000001.9:g.158277896C>T	NCBI36
NG_016411.1:g.33690G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000509700.2:c.671+352G>A
ENST00000636689.1:n.95-2134G>A
ENST00000637644.1:c.487+564G>A	ENSP00000490282.1:n.487+564G>A
ENST00000638728.1:c.1051G>A	ENSP00000492619.1:p.Asp351Asn
ENST00000638840.1:c.773G>A
ENST00000638868.1:c.1051G>A	ENSP00000491250.1:p.Asp351Asn
ENST00000639408.1:c.487+564G>A	ENSP00000491635.1:n.487+564G>A
ENST00000640017.1:c.669+352G>A	ENSP00000491337.1:n.669+352G>A
ENST00000640914.1:c.124+352G>A
ENST00000644903.1:c.1051G>A MANE Select	ENSP00000495557.1:p.Asp351Asn
ENST00000368089.3:c.1051G>A	ENSP00000357068.3:p.Asp351Asn
ENST00000509700.1:n.462+352G>A
NM_002241.4:c.1051G>A	NP_002232.2:p.Asp351Asn
NM_002241.5:c.1051G>A MANE Select	NP_002232.2:p.Asp351Asn