Canonical Allele Identifier: CA3189258060
Community Standard Title: NM_000525.4(KCNJ11):c.1037C= (p.Ala346=)
Gene: KCNJ11 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17387055G= , CM000673.2:g.17387055G= GRCh38
NC_000011.9:g.17408602G= , CM000673.1:g.17408602G= GRCh37
NC_000011.8:g.17365178G= NCBI36
NG_012446.1:g.6605C=

Transcript Alleles

HGVS Amino-acid Change
NM_000525.4:c.1037C= MANE Select NP_000516.3:p.Ala346=
ENST00000339994.5:c.1037C= MANE Select ENSP00000345708.4:p.Ala346=
NM_000525.3:c.1037C= NP_000516.3:p.Ala346=
NM_001166290.1:c.776C= NP_001159762.1:p.Ala259=
NM_001166290.2:c.776C= NP_001159762.1:p.Ala259=
NM_001377296.1:c.776C= NP_001364225.1:p.Ala259=
NM_001377297.1:c.776C= NP_001364226.1:p.Ala259=
ENST00000339994.4:c.1037C= ENSP00000345708.4:p.Ala346=
ENST00000528731.1:c.776C= ENSP00000434755.1:p.Ala259=
ENST00000682350.1:c.776C= ENSP00000508090.1:p.Ala259=
ENST00000682764.1:c.776C= ENSP00000506780.1:p.Ala259=
XM_006718226.2:c.776C= XP_006718289.1:p.Ala259=
XM_006718226.3:c.776C= XP_006718289.1:p.Ala259=
XM_017017680.1:c.776C= XP_016873169.1:p.Ala259=
XR_930867.1:n.1195C=