Canonical Allele Identifier: CA379774042
Gene: KCNJ11 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17387703G>A , CM000673.2:g.17387703G>A GRCh38
NC_000011.9:g.17409250G>A , CM000673.1:g.17409250G>A GRCh37
NC_000011.8:g.17365826G>A NCBI36
NG_012446.1:g.5957C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000528992.2:c.161C>T ENSP00000436479.2:p.Thr54Ile
ENST00000682350.1:c.128C>T ENSP00000508090.1:p.Thr43Ile
ENST00000682764.1:c.128C>T ENSP00000506780.1:p.Thr43Ile
ENST00000339994.5:c.389C>T MANE Select ENSP00000345708.4:p.Thr130Ile
ENST00000339994.4:c.389C>T ENSP00000345708.4:p.Thr130Ile
ENST00000526912.1:c.128C>T ENSP00000432729.1:p.Thr43Ile
ENST00000528731.1:c.128C>T ENSP00000434755.1:p.Thr43Ile
ENST00000528992.1:c.406C>T
NM_000525.3:c.389C>T NP_000516.3:p.Thr130Ile
NM_001166290.1:c.128C>T NP_001159762.1:p.Thr43Ile
XM_006718226.2:c.128C>T XP_006718289.1:p.Thr43Ile
XR_930867.1:n.547C>T
XM_006718226.3:c.128C>T XP_006718289.1:p.Thr43Ile
XM_017017680.1:c.128C>T XP_016873169.1:p.Thr43Ile
NM_001166290.2:c.128C>T NP_001159762.1:p.Thr43Ile
NM_001377296.1:c.128C>T NP_001364225.1:p.Thr43Ile
NM_001377297.1:c.128C>T NP_001364226.1:p.Thr43Ile
NM_000525.4:c.389C>T MANE Select NP_000516.3:p.Thr130Ile