Canonical Allele Identifier: CA379775127
Gene: KCNJ11 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17387845A>G , CM000673.2:g.17387845A>G GRCh38
NC_000011.9:g.17409392A>G , CM000673.1:g.17409392A>G GRCh37
NC_000011.8:g.17365968A>G NCBI36
NG_012446.1:g.5815T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000528992.2:c.19T>C ENSP00000436479.2:p.Trp7Arg
ENST00000682350.1:c.-15T>C ENSP00000508090.1:n.-15T>C
ENST00000682764.1:c.-15T>C ENSP00000506780.1:n.-15T>C
ENST00000339994.5:c.247T>C MANE Select ENSP00000345708.4:p.Trp83Arg
ENST00000339994.4:c.247T>C ENSP00000345708.4:p.Trp83Arg
ENST00000526912.1:c.-15T>C ENSP00000432729.1:n.-15T>C
ENST00000528731.1:c.-15T>C ENSP00000434755.1:n.-15T>C
ENST00000528992.1:c.264T>C
NM_000525.3:c.247T>C NP_000516.3:p.Trp83Arg
NM_001166290.1:c.-15T>C NP_001159762.1:n.-15T>C
XM_006718226.2:c.-15T>C XP_006718289.1:n.-15T>C
XR_930867.1:n.405T>C
XM_006718226.3:c.-15T>C XP_006718289.1:n.-15T>C
XM_017017680.1:c.-15T>C XP_016873169.1:n.-15T>C
NM_001166290.2:c.-15T>C NP_001159762.1:n.-15T>C
NM_001377296.1:c.-15T>C NP_001364225.1:n.-15T>C
NM_001377297.1:c.-15T>C NP_001364226.1:n.-15T>C
NM_000525.4:c.247T>C MANE Select NP_000516.3:p.Trp83Arg