Canonical Allele Identifier: CA1723592991
Gene: ABCB4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.87431505C= , CM000669.2:g.87431505C= GRCh38
NC_000007.13:g.87060821C= , CM000669.1:g.87060821C= GRCh37
NC_000007.12:g.86898757C= NCBI36
NG_007118.1:g.53928G=
NG_007118.2:g.53928G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000359206.8:c.1792G= ENSP00000352135.3:p.Asp598=
ENST00000643670.1:c.1808G= ENSP00000496629.1:n.1808G=
ENST00000644106.1:c.*1329G= ENSP00000493477.1:n.*1329G=
ENST00000649586.2:c.1792G= MANE Select ENSP00000496956.2:p.Asp598=
ENST00000265723.8:c.1792G= ENSP00000265723.4:p.Asp598=
ENST00000358400.7:c.1792G= ENSP00000351172.3:p.Asp598=
ENST00000359206.7:c.1792G= ENSP00000352135.3:p.Asp598=
ENST00000453593.5:c.1792G= ENSP00000392983.1:p.Asp598=
NM_000443.3:c.1792G= NP_000434.1:p.Asp598=
NM_018849.2:c.1792G= NP_061337.1:p.Asp598=
NM_018850.2:c.1792G= NP_061338.1:p.Asp598=
XM_011516308.1:c.1792G= XP_011514610.1:p.Asp598=
XM_011516309.1:c.1792G= XP_011514611.1:p.Asp598=
XM_011516310.1:c.1792G= XP_011514612.1:p.Asp598=
XM_011516311.1:c.1792G= XP_011514613.1:p.Asp598=
XM_011516312.1:c.1792G= XP_011514614.1:p.Asp598=
XM_011516313.1:c.1792G= XP_011514615.1:p.Asp598=
XM_011516314.1:c.1813G= XP_011514616.1:p.Asp605=
XM_011516315.1:c.1132G= XP_011514617.1:p.Asp378=
XR_927478.1:n.1888G=
XM_011516308.3:c.2062G= XP_011514610.3:p.Asp688=
XM_011516309.3:c.2062G= XP_011514611.3:p.Asp688=
XM_011516310.3:c.2062G= XP_011514612.3:p.Asp688=
XM_011516311.3:c.2062G= XP_011514613.3:p.Asp688=
XM_011516312.3:c.2062G= XP_011514614.3:p.Asp688=
XM_011516313.3:c.2062G= XP_011514615.2:p.Asp688=
XM_011516315.3:c.1132G= XP_011514617.2:p.Asp378=
XM_017012323.2:c.1792G= XP_016867812.1:p.Asp598=
XR_001744809.2:n.2563G=
XR_001744810.2:n.2558G=
NM_000443.4:c.1792G= MANE Select NP_000434.1:p.Asp598=
NM_018849.3:c.1792G= NP_061337.1:p.Asp598=
NM_018850.3:c.1792G= NP_061338.1:p.Asp598=