Canonical Allele Identifier: CA368056241
Gene: ABCB4 HGNC NCBI

Linked Data

ClinVar Variation Id: 3064147
ClinVar RCV Id: RCV003988735

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.87402098A>T , CM000669.2:g.87402098A>T GRCh38
NC_000007.13:g.87031414A>T , CM000669.1:g.87031414A>T GRCh37
NC_000007.12:g.86869350A>T NCBI36
NG_007118.1:g.83335T>A
NG_007118.2:g.83335T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000359206.8:c.3838T>A ENSP00000352135.3:p.Ter1280Arg
ENST00000649586.2:c.3838T>A MANE Select ENSP00000496956.2:p.Ter1280Arg
ENST00000265723.8:c.3859T>A ENSP00000265723.4:p.Ter1287Arg
ENST00000358400.7:c.3697T>A ENSP00000351172.3:p.Ter1233Arg
ENST00000359206.7:c.3838T>A ENSP00000352135.3:p.Ter1280Arg
ENST00000440025.1:c.241+31T>A
ENST00000453593.5:c.3697T>A ENSP00000392983.1:p.Ter1233Arg
NM_000443.3:c.3838T>A NP_000434.1:p.Ter1280Arg
NM_018849.2:c.3859T>A NP_061337.1:p.Ter1287Arg
NM_018850.2:c.3697T>A NP_061338.1:p.Ter1233Arg
XM_011516308.1:c.3859T>A XP_011514610.1:p.Ter1287Arg
XM_011516309.1:c.3838T>A XP_011514611.1:p.Ter1280Arg
XM_011516310.1:c.3754T>A XP_011514612.1:p.Ter1252Arg
XM_011516311.1:c.3730T>A XP_011514613.1:p.Ter1244Arg
XM_011516312.1:c.3718T>A XP_011514614.1:p.Ter1240Arg
XM_011516313.1:c.3697T>A XP_011514615.1:p.Ter1233Arg
XM_011516314.1:c.3880T>A XP_011514616.1:p.Ter1294Arg
XM_011516315.1:c.3199T>A XP_011514617.1:p.Ter1067Arg
XM_011516308.3:c.4098+31T>A XP_011514610.3:n.4098+31T>A
XM_011516309.3:c.4077+31T>A XP_011514611.3:n.4077+31T>A
XM_011516310.3:c.3993+31T>A XP_011514612.3:n.3993+31T>A
XM_011516311.3:c.3969+31T>A XP_011514613.3:n.3969+31T>A
XM_011516312.3:c.3957+31T>A XP_011514614.3:n.3957+31T>A
XM_011516313.3:c.3967T>A XP_011514615.2:p.Ter1323Arg
XM_011516315.3:c.3168+31T>A XP_011514617.2:n.3168+31T>A
XM_017012323.2:c.3828+31T>A XP_016867812.1:n.3828+31T>A
NM_000443.4:c.3838T>A MANE Select NP_000434.1:p.Ter1280Arg
NM_018849.3:c.3859T>A NP_061337.1:p.Ter1287Arg
NM_018850.3:c.3697T>A NP_061338.1:p.Ter1233Arg