Canonical Allele Identifier: CA379774087
Gene: KCNJ11 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17387713C>A , CM000673.2:g.17387713C>A GRCh38
NC_000011.9:g.17409260C>A , CM000673.1:g.17409260C>A GRCh37
NC_000011.8:g.17365836C>A NCBI36
NG_012446.1:g.5947G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000528992.2:c.151G>T ENSP00000436479.2:p.Val51Phe
ENST00000682350.1:c.118G>T ENSP00000508090.1:p.Val40Phe
ENST00000682764.1:c.118G>T ENSP00000506780.1:p.Val40Phe
ENST00000339994.5:c.379G>T MANE Select ENSP00000345708.4:p.Val127Phe
ENST00000339994.4:c.379G>T ENSP00000345708.4:p.Val127Phe
ENST00000526912.1:c.118G>T ENSP00000432729.1:p.Val40Phe
ENST00000528731.1:c.118G>T ENSP00000434755.1:p.Val40Phe
ENST00000528992.1:c.396G>T
NM_000525.3:c.379G>T NP_000516.3:p.Val127Phe
NM_001166290.1:c.118G>T NP_001159762.1:p.Val40Phe
XM_006718226.2:c.118G>T XP_006718289.1:p.Val40Phe
XR_930867.1:n.537G>T
XM_006718226.3:c.118G>T XP_006718289.1:p.Val40Phe
XM_017017680.1:c.118G>T XP_016873169.1:p.Val40Phe
NM_001166290.2:c.118G>T NP_001159762.1:p.Val40Phe
NM_001377296.1:c.118G>T NP_001364225.1:p.Val40Phe
NM_001377297.1:c.118G>T NP_001364226.1:p.Val40Phe
NM_000525.4:c.379G>T MANE Select NP_000516.3:p.Val127Phe