Canonical Allele Identifier: CA456356853

Gene: ABCB4

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.87406366G>A , CM000669.2:g.87406366G>A	GRCh38
NC_000007.13:g.87035682G>A , CM000669.1:g.87035682G>A	GRCh37
NC_000007.12:g.86873618G>A	NCBI36
NG_007118.1:g.79067C>T
NG_007118.2:g.79067C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000443.4:c.3408C>T MANE Select	NP_000434.1:p.Ser1136=
ENST00000649586.2:c.3408C>T MANE Select	ENSP00000496956.2:p.Ser1136=
NM_000443.3:c.3408C>T	NP_000434.1:p.Ser1136=
NM_018849.2:c.3429C>T	NP_061337.1:p.Ser1143=
NM_018849.3:c.3429C>T	NP_061337.1:p.Ser1143=
NM_018850.2:c.3267C>T	NP_061338.1:p.Ser1089=
NM_018850.3:c.3267C>T	NP_061338.1:p.Ser1089=
ENST00000265723.8:c.3429C>T	ENSP00000265723.4:p.Ser1143=
ENST00000358400.7:c.3267C>T	ENSP00000351172.3:p.Ser1089=
ENST00000359206.7:c.3408C>T	ENSP00000352135.3:p.Ser1136=
ENST00000359206.8:c.3408C>T	ENSP00000352135.3:p.Ser1136=
ENST00000453593.5:c.3267C>T	ENSP00000392983.1:p.Ser1089=
ENST00000467079.1:n.348C>T
XM_011516308.1:c.3429C>T	XP_011514610.1:p.Ser1143=
XM_011516308.3:c.3699C>T	XP_011514610.3:p.Ser1233=
XM_011516309.1:c.3408C>T	XP_011514611.1:p.Ser1136=
XM_011516309.3:c.3678C>T	XP_011514611.3:p.Ser1226=
XM_011516310.1:c.3324C>T	XP_011514612.1:p.Ser1108=
XM_011516310.3:c.3594C>T	XP_011514612.3:p.Ser1198=
XM_011516311.1:c.3300C>T	XP_011514613.1:p.Ser1100=
XM_011516311.3:c.3570C>T	XP_011514613.3:p.Ser1190=
XM_011516312.1:c.3288C>T	XP_011514614.1:p.Ser1096=
XM_011516312.3:c.3558C>T	XP_011514614.3:p.Ser1186=
XM_011516313.1:c.3267C>T	XP_011514615.1:p.Ser1089=
XM_011516313.3:c.3537C>T	XP_011514615.2:p.Ser1179=
XM_011516314.1:c.3450C>T	XP_011514616.1:p.Ser1150=
XM_011516315.1:c.2769C>T	XP_011514617.1:p.Ser923=
XM_011516315.3:c.2769C>T	XP_011514617.2:p.Ser923=
XM_017012323.2:c.3429C>T	XP_016867812.1:p.Ser1143=
XR_001744809.2:n.3937C>T
XR_927478.1:n.3262C>T