Canonical Allele Identifier: CA3189260016
Community Standard Title: NM_000525.4(KCNJ11):c.826C= (p.His276=)
Gene: KCNJ11 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17387266G= , CM000673.2:g.17387266G= GRCh38
NC_000011.9:g.17408813G= , CM000673.1:g.17408813G= GRCh37
NC_000011.8:g.17365389G= NCBI36
NG_012446.1:g.6394C=

Transcript Alleles

HGVS Amino-acid Change
NM_000525.4:c.826C= MANE Select NP_000516.3:p.His276=
ENST00000339994.5:c.826C= MANE Select ENSP00000345708.4:p.His276=
NM_000525.3:c.826C= NP_000516.3:p.His276=
NM_001166290.1:c.565C= NP_001159762.1:p.His189=
NM_001166290.2:c.565C= NP_001159762.1:p.His189=
NM_001377296.1:c.565C= NP_001364225.1:p.His189=
NM_001377297.1:c.565C= NP_001364226.1:p.His189=
ENST00000339994.4:c.826C= ENSP00000345708.4:p.His276=
ENST00000528731.1:c.565C= ENSP00000434755.1:p.His189=
ENST00000682350.1:c.565C= ENSP00000508090.1:p.His189=
ENST00000682764.1:c.565C= ENSP00000506780.1:p.His189=
XM_006718226.2:c.565C= XP_006718289.1:p.His189=
XM_006718226.3:c.565C= XP_006718289.1:p.His189=
XM_017017680.1:c.565C= XP_016873169.1:p.His189=
XR_930867.1:n.984C=