Canonical Allele Identifier: CA5902263
Gene: KCNJ11 HGNC NCBI

Linked Data

ClinVar Variation Id: 992027
ClinVar RCV Id: RCV001280337
dbSNP Id: rs746308356

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17387408G>A , CM000673.2:g.17387408G>A GRCh38
NC_000011.9:g.17408955G>A , CM000673.1:g.17408955G>A GRCh37
NC_000011.8:g.17365531G>A NCBI36
NG_012446.1:g.6252C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000682350.1:c.423C>T ENSP00000508090.1:p.Gly141=
ENST00000682764.1:c.423C>T ENSP00000506780.1:p.Gly141=
ENST00000339994.5:c.684C>T MANE Select ENSP00000345708.4:p.Gly228=
ENST00000339994.4:c.684C>T ENSP00000345708.4:p.Gly228=
ENST00000526912.1:c.423C>T ENSP00000432729.1:p.Gly141=
ENST00000528731.1:c.423C>T ENSP00000434755.1:p.Gly141=
NM_000525.3:c.684C>T NP_000516.3:p.Gly228=
NM_001166290.1:c.423C>T NP_001159762.1:p.Gly141=
XM_006718226.2:c.423C>T XP_006718289.1:p.Gly141=
XR_930867.1:n.842C>T
XM_006718226.3:c.423C>T XP_006718289.1:p.Gly141=
XM_017017680.1:c.423C>T XP_016873169.1:p.Gly141=
NM_001166290.2:c.423C>T NP_001159762.1:p.Gly141=
NM_001377296.1:c.423C>T NP_001364225.1:p.Gly141=
NM_001377297.1:c.423C>T NP_001364226.1:p.Gly141=
NM_000525.4:c.684C>T MANE Select NP_000516.3:p.Gly228=