Canonical Allele Identifier: CA674171420

Gene: KCNJ11

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17385699C>T , CM000673.2:g.17385699C>T	GRCh38
NC_000011.9:g.17407246C>T , CM000673.1:g.17407246C>T	GRCh37
NC_000011.8:g.17363822C>T	NCBI36
NG_012446.1:g.7961G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000525.4:c.*1220G>A MANE Select	NP_000516.3:n.*1220G>A
ENST00000339994.5:c.*1220G>A MANE Select	ENSP00000345708.4:n.*1220G>A
NM_000525.3:c.*1220G>A	NP_000516.3:n.*1220G>A
NM_001166290.1:c.*1220G>A	NP_001159762.1:n.*1220G>A
NM_001166290.2:c.*1220G>A	NP_001159762.1:n.*1220G>A
NM_001377296.1:c.*1220G>A	NP_001364225.1:n.*1220G>A
NM_001377297.1:c.*1220G>A	NP_001364226.1:n.*1220G>A
ENST00000682764.1:c.*50+1170G>A	ENSP00000506780.1:n.*50+1170G>A
XM_006718226.2:c.*1220G>A	XP_006718289.1:n.*1220G>A
XM_006718226.3:c.*1220G>A	XP_006718289.1:n.*1220G>A
XM_017017680.1:c.*1220G>A	XP_016873169.1:n.*1220G>A
XR_930867.1:n.1381+1170G>A