Canonical Allele Identifier: CA254188
Gene: KCNJ10 HGNC NCBI

Linked Data

ClinVar Variation Id: 7470
dbSNP Id: rs137853074

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.160041491G>A , CM000663.2:g.160041491G>A GRCh38
NC_000001.10:g.160011281G>A , CM000663.1:g.160011281G>A GRCh37
NC_000001.9:g.158277905G>A NCBI36
NG_016411.1:g.33681C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000509700.2:n.671+343C>T
ENST00000636689.1:n.95-2143C>T
ENST00000637644.1:c.487+555C>T ENSP00000490282.1:p.=
ENST00000638728.1:c.1042C>T ENSP00000492619.1:p.Arg348Cys
ENST00000638840.1:n.764C>T
ENST00000638868.1:c.1042C>T ENSP00000491250.1:p.Arg348Cys
ENST00000639408.1:c.487+555C>T ENSP00000491635.1:p.=
ENST00000640017.1:n.669+343C>T ENSP00000491337.1:p.=
ENST00000640914.1:n.124+343C>T
ENST00000644903.1:c.1042C>T MANE Select ENSP00000495557.1:p.Arg348Cys
ENST00000368089.3:c.1042C>T ENSP00000357068.3:p.Arg348Cys
ENST00000509700.1:n.462+343C>T
NM_002241.4:c.1042C>T NP_002232.2:p.Arg348Cys
NM_002241.5:c.1042C>T MANE Select NP_002232.2:p.Arg348Cys