Canonical Allele Identifier: CA4326846

Gene: ABCB4

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.87408180G>A , CM000669.2:g.87408180G>A	GRCh38
NC_000007.13:g.87037496G>A , CM000669.1:g.87037496G>A	GRCh37
NC_000007.12:g.86875432G>A	NCBI36
NG_007118.1:g.77253C>T
NG_007118.2:g.77253C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000443.4:c.3136C>T MANE Select	NP_000434.1:p.Arg1046Ter
ENST00000649586.2:c.3136C>T MANE Select	ENSP00000496956.2:p.Arg1046Ter
NM_000443.3:c.3136C>T	NP_000434.1:p.Arg1046Ter
NM_018849.2:c.3136C>T	NP_061337.1:p.Arg1046Ter
NM_018849.3:c.3136C>T	NP_061337.1:p.Arg1046Ter
NM_018850.2:c.2995C>T	NP_061338.1:p.Arg999Ter
NM_018850.3:c.2995C>T	NP_061338.1:p.Arg999Ter
ENST00000265723.8:c.3136C>T	ENSP00000265723.4:p.Arg1046Ter
ENST00000358400.7:c.2995C>T	ENSP00000351172.3:p.Arg999Ter
ENST00000359206.7:c.3136C>T	ENSP00000352135.3:p.Arg1046Ter
ENST00000359206.8:c.3136C>T	ENSP00000352135.3:p.Arg1046Ter
ENST00000453593.5:c.2995C>T	ENSP00000392983.1:p.Arg999Ter
ENST00000467079.1:n.55C>T
XM_011516308.1:c.3136C>T	XP_011514610.1:p.Arg1046Ter
XM_011516308.3:c.3406C>T	XP_011514610.3:p.Arg1136Ter
XM_011516309.1:c.3136C>T	XP_011514611.1:p.Arg1046Ter
XM_011516309.3:c.3406C>T	XP_011514611.3:p.Arg1136Ter
XM_011516310.1:c.3031C>T	XP_011514612.1:p.Arg1011Ter
XM_011516310.3:c.3301C>T	XP_011514612.3:p.Arg1101Ter
XM_011516311.1:c.3007C>T	XP_011514613.1:p.Arg1003Ter
XM_011516311.3:c.3277C>T	XP_011514613.3:p.Arg1093Ter
XM_011516312.1:c.2995C>T	XP_011514614.1:p.Arg999Ter
XM_011516312.3:c.3265C>T	XP_011514614.3:p.Arg1089Ter
XM_011516313.1:c.2995C>T	XP_011514615.1:p.Arg999Ter
XM_011516313.3:c.3265C>T	XP_011514615.2:p.Arg1089Ter
XM_011516314.1:c.3157C>T	XP_011514616.1:p.Arg1053Ter
XM_011516315.1:c.2476C>T	XP_011514617.1:p.Arg826Ter
XM_011516315.3:c.2476C>T	XP_011514617.2:p.Arg826Ter
XM_017012323.2:c.3136C>T	XP_016867812.1:p.Arg1046Ter
XR_001744809.2:n.3665C>T
XR_927478.1:n.2990C>T