Canonical Allele Identifier: CA473515424
Gene: KCNJ11 HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.17409048G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17387501G>A , CM000673.2:g.17387501G>A GRCh38
NC_000011.9:g.17409048G>A , CM000673.1:g.17409048G>A GRCh37
NC_000011.8:g.17365624G>A NCBI36
NG_012446.1:g.6159C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000682350.1:c.330C>T ENSP00000508090.1:p.Cys110=
ENST00000682764.1:c.330C>T ENSP00000506780.1:p.Cys110=
ENST00000339994.5:c.591C>T MANE Select ENSP00000345708.4:p.Cys197=
ENST00000339994.4:c.591C>T ENSP00000345708.4:p.Cys197=
ENST00000526912.1:c.330C>T ENSP00000432729.1:p.Cys110=
ENST00000528731.1:c.330C>T ENSP00000434755.1:p.Cys110=
NM_000525.3:c.591C>T NP_000516.3:p.Cys197=
NM_001166290.1:c.330C>T NP_001159762.1:p.Cys110=
XM_006718226.2:c.330C>T XP_006718289.1:p.Cys110=
XR_930867.1:n.749C>T
XM_006718226.3:c.330C>T XP_006718289.1:p.Cys110=
XM_017017680.1:c.330C>T XP_016873169.1:p.Cys110=
NM_001166290.2:c.330C>T NP_001159762.1:p.Cys110=
NM_001377296.1:c.330C>T NP_001364225.1:p.Cys110=
NM_001377297.1:c.330C>T NP_001364226.1:p.Cys110=
NM_000525.4:c.591C>T MANE Select NP_000516.3:p.Cys197=