Canonical Allele Identifier: CA368048331
Gene: ABCB4 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.87447048C>A , CM000669.2:g.87447048C>A GRCh38
NC_000007.13:g.87076364C>A , CM000669.1:g.87076364C>A GRCh37
NC_000007.12:g.86914300C>A NCBI36
NG_007118.1:g.38385G>T
NG_007118.2:g.38385G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000359206.8:c.991G>T ENSP00000352135.3:p.Gly331Ter
ENST00000643670.1:c.1007G>T ENSP00000496629.1:n.1007G>T
ENST00000644106.1:c.*528G>T ENSP00000493477.1:n.*528G>T
ENST00000649586.2:c.991G>T MANE Select ENSP00000496956.2:p.Gly331Ter
ENST00000265723.8:c.991G>T ENSP00000265723.4:p.Gly331Ter
ENST00000358400.7:c.991G>T ENSP00000351172.3:p.Gly331Ter
ENST00000359206.7:c.991G>T ENSP00000352135.3:p.Gly331Ter
ENST00000453593.5:c.991G>T ENSP00000392983.1:p.Gly331Ter
NM_000443.3:c.991G>T NP_000434.1:p.Gly331Ter
NM_018849.2:c.991G>T NP_061337.1:p.Gly331Ter
NM_018850.2:c.991G>T NP_061338.1:p.Gly331Ter
XM_011516308.1:c.991G>T XP_011514610.1:p.Gly331Ter
XM_011516309.1:c.991G>T XP_011514611.1:p.Gly331Ter
XM_011516310.1:c.991G>T XP_011514612.1:p.Gly331Ter
XM_011516311.1:c.991G>T XP_011514613.1:p.Gly331Ter
XM_011516312.1:c.991G>T XP_011514614.1:p.Gly331Ter
XM_011516313.1:c.991G>T XP_011514615.1:p.Gly331Ter
XM_011516314.1:c.1012G>T XP_011514616.1:p.Gly338Ter
XM_011516315.1:c.331G>T XP_011514617.1:p.Gly111Ter
XR_927478.1:n.1087G>T
XM_011516308.3:c.1261G>T XP_011514610.3:p.Gly421Ter
XM_011516309.3:c.1261G>T XP_011514611.3:p.Gly421Ter
XM_011516310.3:c.1261G>T XP_011514612.3:p.Gly421Ter
XM_011516311.3:c.1261G>T XP_011514613.3:p.Gly421Ter
XM_011516312.3:c.1261G>T XP_011514614.3:p.Gly421Ter
XM_011516313.3:c.1261G>T XP_011514615.2:p.Gly421Ter
XM_011516315.3:c.331G>T XP_011514617.2:p.Gly111Ter
XM_017012323.2:c.991G>T XP_016867812.1:p.Gly331Ter
XR_001744809.2:n.1762G>T
XR_001744810.2:n.1757G>T
NM_000443.4:c.991G>T MANE Select NP_000434.1:p.Gly331Ter
NM_018849.3:c.991G>T NP_061337.1:p.Gly331Ter
NM_018850.3:c.991G>T NP_061338.1:p.Gly331Ter