Canonical Allele Identifier: CA3184713082
Community Standard Title: NM_000525.4(KCNJ11):c.663C= (p.Arg221=)
Gene: KCNJ11 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17387429G= , CM000673.2:g.17387429G= GRCh38
NC_000011.9:g.17408976G= , CM000673.1:g.17408976G= GRCh37
NC_000011.8:g.17365552G= NCBI36
NG_012446.1:g.6231C=

Transcript Alleles

HGVS Amino-acid Change
NM_000525.4:c.663C= MANE Select NP_000516.3:p.Arg221=
ENST00000339994.5:c.663C= MANE Select ENSP00000345708.4:p.Arg221=
NM_000525.3:c.663C= NP_000516.3:p.Arg221=
NM_001166290.1:c.402C= NP_001159762.1:p.Arg134=
NM_001166290.2:c.402C= NP_001159762.1:p.Arg134=
NM_001377296.1:c.402C= NP_001364225.1:p.Arg134=
NM_001377297.1:c.402C= NP_001364226.1:p.Arg134=
ENST00000339994.4:c.663C= ENSP00000345708.4:p.Arg221=
ENST00000526912.1:c.402C= ENSP00000432729.1:p.Arg134=
ENST00000528731.1:c.402C= ENSP00000434755.1:p.Arg134=
ENST00000682350.1:c.402C= ENSP00000508090.1:p.Arg134=
ENST00000682764.1:c.402C= ENSP00000506780.1:p.Arg134=
XM_006718226.2:c.402C= XP_006718289.1:p.Arg134=
XM_006718226.3:c.402C= XP_006718289.1:p.Arg134=
XM_017017680.1:c.402C= XP_016873169.1:p.Arg134=
XR_930867.1:n.821C=