Canonical Allele Identifier: CA1955119308
Community Standard Title: NM_000525.4(KCNJ11):c.536A= (p.Glu179=)
Gene: KCNJ11 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17387556T= , CM000673.2:g.17387556T= GRCh38
NC_000011.9:g.17409103T= , CM000673.1:g.17409103T= GRCh37
NC_000011.8:g.17365679T= NCBI36
NG_012446.1:g.6104A=

Transcript Alleles

HGVS Amino-acid Change
NM_000525.4:c.536A= MANE Select NP_000516.3:p.Glu179=
ENST00000339994.5:c.536A= MANE Select ENSP00000345708.4:p.Glu179=
NM_000525.3:c.536A= NP_000516.3:p.Glu179=
NM_001166290.1:c.275A= NP_001159762.1:p.Glu92=
NM_001166290.2:c.275A= NP_001159762.1:p.Glu92=
NM_001377296.1:c.275A= NP_001364225.1:p.Glu92=
NM_001377297.1:c.275A= NP_001364226.1:p.Glu92=
ENST00000339994.4:c.536A= ENSP00000345708.4:p.Glu179=
ENST00000526912.1:c.275A= ENSP00000432729.1:p.Glu92=
ENST00000528731.1:c.275A= ENSP00000434755.1:p.Glu92=
ENST00000682350.1:c.275A= ENSP00000508090.1:p.Glu92=
ENST00000682764.1:c.275A= ENSP00000506780.1:p.Glu92=
XM_006718226.2:c.275A= XP_006718289.1:p.Glu92=
XM_006718226.3:c.275A= XP_006718289.1:p.Glu92=
XM_017017680.1:c.275A= XP_016873169.1:p.Glu92=
XR_930867.1:n.694A=