Canonical Allele Identifier: CA343222519

Gene: KCNJ10

Linked Data

• dbSNP Id: rs1648604953
• MyVariant Identifiers: chr1:g.160011293C>G (hg19) ; chr1:g.160041503C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.160041503C>G , CM000663.2:g.160041503C>G	GRCh38
NC_000001.10:g.160011293C>G , CM000663.1:g.160011293C>G	GRCh37
NC_000001.9:g.158277917C>G	NCBI36
NG_016411.1:g.33669G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000509700.2:c.671+331G>C
ENST00000636689.1:n.95-2155G>C
ENST00000637644.1:c.487+543G>C	ENSP00000490282.1:n.487+543G>C
ENST00000638728.1:c.1030G>C	ENSP00000492619.1:p.Asp344His
ENST00000638840.1:c.752G>C
ENST00000638868.1:c.1030G>C	ENSP00000491250.1:p.Asp344His
ENST00000639408.1:c.487+543G>C	ENSP00000491635.1:n.487+543G>C
ENST00000640017.1:c.669+331G>C	ENSP00000491337.1:n.669+331G>C
ENST00000640914.1:c.124+331G>C
ENST00000644903.1:c.1030G>C MANE Select	ENSP00000495557.1:p.Asp344His
ENST00000368089.3:c.1030G>C	ENSP00000357068.3:p.Asp344His
ENST00000509700.1:n.462+331G>C
NM_002241.4:c.1030G>C	NP_002232.2:p.Asp344His
NM_002241.5:c.1030G>C MANE Select	NP_002232.2:p.Asp344His