Canonical Allele Identifier: CA218398828

Gene: KCNJ11

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17386747G>T , CM000673.2:g.17386747G>T	GRCh38
NC_000011.9:g.17408294G>T , CM000673.1:g.17408294G>T	GRCh37
NC_000011.8:g.17364870G>T	NCBI36
NG_012446.1:g.6913C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000525.4:c.*172C>A MANE Select	NP_000516.3:n.*172C>A
ENST00000339994.5:c.*172C>A MANE Select	ENSP00000345708.4:n.*172C>A
NM_000525.3:c.*172C>A	NP_000516.3:n.*172C>A
NM_001166290.1:c.*172C>A	NP_001159762.1:n.*172C>A
NM_001166290.2:c.*172C>A	NP_001159762.1:n.*172C>A
NM_001377296.1:c.*172C>A	NP_001364225.1:n.*172C>A
NM_001377297.1:c.*172C>A	NP_001364226.1:n.*172C>A
ENST00000339994.4:c.*172C>A	ENSP00000345708.4:n.*172C>A
ENST00000526747.1:n.4C>A
ENST00000528731.1:c.*172C>A	ENSP00000434755.1:n.*172C>A
ENST00000682350.1:c.*172C>A	ENSP00000508090.1:n.*172C>A
ENST00000682764.1:c.*50+122C>A	ENSP00000506780.1:n.*50+122C>A
XM_006718226.2:c.*172C>A	XP_006718289.1:n.*172C>A
XM_006718226.3:c.*172C>A	XP_006718289.1:n.*172C>A
XM_017017680.1:c.*172C>A	XP_016873169.1:n.*172C>A
XR_930867.1:n.1381+122C>A