Canonical Allele Identifier: CA10624313

Gene: ABCB4

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.87406402G>A , CM000669.2:g.87406402G>A	GRCh38
NC_000007.13:g.87035718G>A , CM000669.1:g.87035718G>A	GRCh37
NC_000007.12:g.86873654G>A	NCBI36
NG_007118.1:g.79031C>T
NG_007118.2:g.79031C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359206.8:c.3372C>T	ENSP00000352135.3:p.Cys1124=
ENST00000649586.2:c.3372C>T MANE Select	ENSP00000496956.2:p.Cys1124=
ENST00000265723.8:c.3393C>T	ENSP00000265723.4:p.Cys1131=
ENST00000358400.7:c.3231C>T	ENSP00000351172.3:p.Cys1077=
ENST00000359206.7:c.3372C>T	ENSP00000352135.3:p.Cys1124=
ENST00000453593.5:c.3231C>T	ENSP00000392983.1:p.Cys1077=
ENST00000467079.1:n.312C>T
NM_000443.3:c.3372C>T	NP_000434.1:p.Cys1124=
NM_018849.2:c.3393C>T	NP_061337.1:p.Cys1131=
NM_018850.2:c.3231C>T	NP_061338.1:p.Cys1077=
XM_011516308.1:c.3393C>T	XP_011514610.1:p.Cys1131=
XM_011516309.1:c.3372C>T	XP_011514611.1:p.Cys1124=
XM_011516310.1:c.3288C>T	XP_011514612.1:p.Cys1096=
XM_011516311.1:c.3264C>T	XP_011514613.1:p.Cys1088=
XM_011516312.1:c.3252C>T	XP_011514614.1:p.Cys1084=
XM_011516313.1:c.3231C>T	XP_011514615.1:p.Cys1077=
XM_011516314.1:c.3414C>T	XP_011514616.1:p.Cys1138=
XM_011516315.1:c.2733C>T	XP_011514617.1:p.Cys911=
XR_927478.1:n.3226C>T
XM_011516308.3:c.3663C>T	XP_011514610.3:p.Cys1221=
XM_011516309.3:c.3642C>T	XP_011514611.3:p.Cys1214=
XM_011516310.3:c.3558C>T	XP_011514612.3:p.Cys1186=
XM_011516311.3:c.3534C>T	XP_011514613.3:p.Cys1178=
XM_011516312.3:c.3522C>T	XP_011514614.3:p.Cys1174=
XM_011516313.3:c.3501C>T	XP_011514615.2:p.Cys1167=
XM_011516315.3:c.2733C>T	XP_011514617.2:p.Cys911=
XM_017012323.2:c.3393C>T	XP_016867812.1:p.Cys1131=
XR_001744809.2:n.3901C>T
NM_000443.4:c.3372C>T MANE Select	NP_000434.1:p.Cys1124=
NM_018849.3:c.3393C>T	NP_061337.1:p.Cys1131=
NM_018850.3:c.3231C>T	NP_061338.1:p.Cys1077=