Canonical Allele Identifier: CA3189257898
Community Standard Title: NM_000525.4(KCNJ11):c.1050T= (p.Asp350=)
Gene: KCNJ11 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17387042A= , CM000673.2:g.17387042A= GRCh38
NC_000011.9:g.17408589A= , CM000673.1:g.17408589A= GRCh37
NC_000011.8:g.17365165A= NCBI36
NG_012446.1:g.6618T=

Transcript Alleles

HGVS Amino-acid Change
NM_000525.4:c.1050T= MANE Select NP_000516.3:p.Asp350=
ENST00000339994.5:c.1050T= MANE Select ENSP00000345708.4:p.Asp350=
NM_000525.3:c.1050T= NP_000516.3:p.Asp350=
NM_001166290.1:c.789T= NP_001159762.1:p.Asp263=
NM_001166290.2:c.789T= NP_001159762.1:p.Asp263=
NM_001377296.1:c.789T= NP_001364225.1:p.Asp263=
NM_001377297.1:c.789T= NP_001364226.1:p.Asp263=
ENST00000339994.4:c.1050T= ENSP00000345708.4:p.Asp350=
ENST00000528731.1:c.789T= ENSP00000434755.1:p.Asp263=
ENST00000682350.1:c.789T= ENSP00000508090.1:p.Asp263=
ENST00000682764.1:c.789T= ENSP00000506780.1:p.Asp263=
XM_006718226.2:c.789T= XP_006718289.1:p.Asp263=
XM_006718226.3:c.789T= XP_006718289.1:p.Asp263=
XM_017017680.1:c.789T= XP_016873169.1:p.Asp263=
XR_930867.1:n.1208T=