Canonical Allele Identifier: CA1723593003
Gene: ABCB4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.87431529G= , CM000669.2:g.87431529G= GRCh38
NC_000007.13:g.87060845G= , CM000669.1:g.87060845G= GRCh37
NC_000007.12:g.86898781G= NCBI36
NG_007118.1:g.53904C=
NG_007118.2:g.53904C=

Transcript Alleles

HGVS Amino-acid change
ENST00000359206.8:c.1768C= ENSP00000352135.3:p.Arg590=
ENST00000643670.1:c.1784C= ENSP00000496629.1:n.1784C=
ENST00000644106.1:c.*1305C= ENSP00000493477.1:n.*1305C=
ENST00000649586.2:c.1768C= MANE Select ENSP00000496956.2:p.Arg590=
ENST00000265723.8:c.1768C= ENSP00000265723.4:p.Arg590=
ENST00000358400.7:c.1768C= ENSP00000351172.3:p.Arg590=
ENST00000359206.7:c.1768C= ENSP00000352135.3:p.Arg590=
ENST00000453593.5:c.1768C= ENSP00000392983.1:p.Arg590=
NM_000443.3:c.1768C= NP_000434.1:p.Arg590=
NM_018849.2:c.1768C= NP_061337.1:p.Arg590=
NM_018850.2:c.1768C= NP_061338.1:p.Arg590=
XM_011516308.1:c.1768C= XP_011514610.1:p.Arg590=
XM_011516309.1:c.1768C= XP_011514611.1:p.Arg590=
XM_011516310.1:c.1768C= XP_011514612.1:p.Arg590=
XM_011516311.1:c.1768C= XP_011514613.1:p.Arg590=
XM_011516312.1:c.1768C= XP_011514614.1:p.Arg590=
XM_011516313.1:c.1768C= XP_011514615.1:p.Arg590=
XM_011516314.1:c.1789C= XP_011514616.1:p.Arg597=
XM_011516315.1:c.1108C= XP_011514617.1:p.Arg370=
XR_927478.1:n.1864C=
XM_011516308.3:c.2038C= XP_011514610.3:p.Arg680=
XM_011516309.3:c.2038C= XP_011514611.3:p.Arg680=
XM_011516310.3:c.2038C= XP_011514612.3:p.Arg680=
XM_011516311.3:c.2038C= XP_011514613.3:p.Arg680=
XM_011516312.3:c.2038C= XP_011514614.3:p.Arg680=
XM_011516313.3:c.2038C= XP_011514615.2:p.Arg680=
XM_011516315.3:c.1108C= XP_011514617.2:p.Arg370=
XM_017012323.2:c.1768C= XP_016867812.1:p.Arg590=
XR_001744809.2:n.2539C=
XR_001744810.2:n.2534C=
NM_000443.4:c.1768C= MANE Select NP_000434.1:p.Arg590=
NM_018849.3:c.1768C= NP_061337.1:p.Arg590=
NM_018850.3:c.1768C= NP_061338.1:p.Arg590=