Canonical Allele Identifier: CA368058063
Gene: ABCB4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.87406293G>T , CM000669.2:g.87406293G>T GRCh38
NC_000007.13:g.87035609G>T , CM000669.1:g.87035609G>T GRCh37
NC_000007.12:g.86873545G>T NCBI36
NG_007118.1:g.79140C>A
NG_007118.2:g.79140C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000359206.8:c.3481C>A ENSP00000352135.3:p.Pro1161Thr
ENST00000649586.2:c.3481C>A MANE Select ENSP00000496956.2:p.Pro1161Thr
ENST00000265723.8:c.3502C>A ENSP00000265723.4:p.Pro1168Thr
ENST00000358400.7:c.3340C>A ENSP00000351172.3:p.Pro1114Thr
ENST00000359206.7:c.3481C>A ENSP00000352135.3:p.Pro1161Thr
ENST00000453593.5:c.3340C>A ENSP00000392983.1:p.Pro1114Thr
ENST00000467079.1:n.421C>A
NM_000443.3:c.3481C>A NP_000434.1:p.Pro1161Thr
NM_018849.2:c.3502C>A NP_061337.1:p.Pro1168Thr
NM_018850.2:c.3340C>A NP_061338.1:p.Pro1114Thr
XM_011516308.1:c.3502C>A XP_011514610.1:p.Pro1168Thr
XM_011516309.1:c.3481C>A XP_011514611.1:p.Pro1161Thr
XM_011516310.1:c.3397C>A XP_011514612.1:p.Pro1133Thr
XM_011516311.1:c.3373C>A XP_011514613.1:p.Pro1125Thr
XM_011516312.1:c.3361C>A XP_011514614.1:p.Pro1121Thr
XM_011516313.1:c.3340C>A XP_011514615.1:p.Pro1114Thr
XM_011516314.1:c.3523C>A XP_011514616.1:p.Pro1175Thr
XM_011516315.1:c.2842C>A XP_011514617.1:p.Pro948Thr
XM_011516308.3:c.3772C>A XP_011514610.3:p.Pro1258Thr
XM_011516309.3:c.3751C>A XP_011514611.3:p.Pro1251Thr
XM_011516310.3:c.3667C>A XP_011514612.3:p.Pro1223Thr
XM_011516311.3:c.3643C>A XP_011514613.3:p.Pro1215Thr
XM_011516312.3:c.3631C>A XP_011514614.3:p.Pro1211Thr
XM_011516313.3:c.3610C>A XP_011514615.2:p.Pro1204Thr
XM_011516315.3:c.2842C>A XP_011514617.2:p.Pro948Thr
XM_017012323.2:c.3502C>A XP_016867812.1:p.Pro1168Thr
XR_001744809.2:n.4010C>A
NM_000443.4:c.3481C>A MANE Select NP_000434.1:p.Pro1161Thr
NM_018849.3:c.3502C>A NP_061337.1:p.Pro1168Thr
NM_018850.3:c.3340C>A NP_061338.1:p.Pro1114Thr