Canonical Allele Identifier: CA1193163

Gene: KCNJ10

Linked Data

• dbSNP Id: rs756846428
• ExAC: 1:160011239 T / G
• gnomAD v2: 1-160011239-T-G
• gnomAD v4: 1-160041449-T-G
• MyVariant Identifiers: chr1:g.160011239T>G (hg19) ; chr1:g.160041449T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.160041449T>G , CM000663.2:g.160041449T>G	GRCh38
NC_000001.10:g.160011239T>G , CM000663.1:g.160011239T>G	GRCh37
NC_000001.9:g.158277863T>G	NCBI36
NG_016411.1:g.33723A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000509700.2:c.671+385A>C
ENST00000636689.1:n.95-2101A>C
ENST00000637644.1:c.487+597A>C	ENSP00000490282.1:n.487+597A>C
ENST00000638728.1:c.1084A>C	ENSP00000492619.1:p.Arg362=
ENST00000638840.1:c.806A>C
ENST00000638868.1:c.1084A>C	ENSP00000491250.1:p.Arg362=
ENST00000639408.1:c.487+597A>C	ENSP00000491635.1:n.487+597A>C
ENST00000640017.1:c.669+385A>C	ENSP00000491337.1:n.669+385A>C
ENST00000640914.1:c.124+385A>C
ENST00000644903.1:c.1084A>C MANE Select	ENSP00000495557.1:p.Arg362=
ENST00000368089.3:c.1084A>C	ENSP00000357068.3:p.Arg362=
ENST00000509700.1:n.462+385A>C
NM_002241.4:c.1084A>C	NP_002232.2:p.Arg362=
NM_002241.5:c.1084A>C MANE Select	NP_002232.2:p.Arg362=