Canonical Allele Identifier: CA368059086

Gene: ABCB4

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.87408096C>T , CM000669.2:g.87408096C>T	GRCh38
NC_000007.13:g.87037412C>T , CM000669.1:g.87037412C>T	GRCh37
NC_000007.12:g.86875348C>T	NCBI36
NG_007118.1:g.77337G>A
NG_007118.2:g.77337G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000443.4:c.3220G>A MANE Select	NP_000434.1:p.Gly1074Arg
ENST00000649586.2:c.3220G>A MANE Select	ENSP00000496956.2:p.Gly1074Arg
NM_000443.3:c.3220G>A	NP_000434.1:p.Gly1074Arg
NM_018849.2:c.3220G>A	NP_061337.1:p.Gly1074Arg
NM_018849.3:c.3220G>A	NP_061337.1:p.Gly1074Arg
NM_018850.2:c.3079G>A	NP_061338.1:p.Gly1027Arg
NM_018850.3:c.3079G>A	NP_061338.1:p.Gly1027Arg
ENST00000265723.8:c.3220G>A	ENSP00000265723.4:p.Gly1074Arg
ENST00000358400.7:c.3079G>A	ENSP00000351172.3:p.Gly1027Arg
ENST00000359206.7:c.3220G>A	ENSP00000352135.3:p.Gly1074Arg
ENST00000359206.8:c.3220G>A	ENSP00000352135.3:p.Gly1074Arg
ENST00000453593.5:c.3079G>A	ENSP00000392983.1:p.Gly1027Arg
ENST00000467079.1:n.139G>A
XM_011516308.1:c.3220G>A	XP_011514610.1:p.Gly1074Arg
XM_011516308.3:c.3490G>A	XP_011514610.3:p.Gly1164Arg
XM_011516309.1:c.3220G>A	XP_011514611.1:p.Gly1074Arg
XM_011516309.3:c.3490G>A	XP_011514611.3:p.Gly1164Arg
XM_011516310.1:c.3115G>A	XP_011514612.1:p.Gly1039Arg
XM_011516310.3:c.3385G>A	XP_011514612.3:p.Gly1129Arg
XM_011516311.1:c.3091G>A	XP_011514613.1:p.Gly1031Arg
XM_011516311.3:c.3361G>A	XP_011514613.3:p.Gly1121Arg
XM_011516312.1:c.3079G>A	XP_011514614.1:p.Gly1027Arg
XM_011516312.3:c.3349G>A	XP_011514614.3:p.Gly1117Arg
XM_011516313.1:c.3079G>A	XP_011514615.1:p.Gly1027Arg
XM_011516313.3:c.3349G>A	XP_011514615.2:p.Gly1117Arg
XM_011516314.1:c.3241G>A	XP_011514616.1:p.Gly1081Arg
XM_011516315.1:c.2560G>A	XP_011514617.1:p.Gly854Arg
XM_011516315.3:c.2560G>A	XP_011514617.2:p.Gly854Arg
XM_017012323.2:c.3220G>A	XP_016867812.1:p.Gly1074Arg
XR_001744809.2:n.3749G>A
XR_927478.1:n.3074G>A