Canonical Allele Identifier: CA203227
Gene: ABCB4 HGNC NCBI

Linked Data

ClinVar Variation Id: 198082
dbSNP Id: rs1202283

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.87452976G>A , CM000669.2:g.87452976G>A GRCh38
NC_000007.13:g.87082292G>A , CM000669.1:g.87082292G>A GRCh37
NC_000007.12:g.86920228G>A NCBI36
NG_007118.1:g.32457C>T
NG_007118.2:g.32457C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000359206.8:c.504C>T ENSP00000352135.3:p.Asn168=
ENST00000643670.1:n.447C>T ENSP00000496629.1:p.Asn149=
ENST00000644106.1:c.504C>T ENSP00000493477.1:p.Asn168=
ENST00000649586.2:c.504C>T MANE Select ENSP00000496956.2:p.Asn168=
ENST00000265723.8:c.504C>T ENSP00000265723.4:p.Asn168=
ENST00000358400.7:c.504C>T ENSP00000351172.3:p.Asn168=
ENST00000359206.7:c.504C>T ENSP00000352135.3:p.Asn168=
ENST00000453593.5:n.504C>T ENSP00000392983.1:p.Asn168=
ENST00000473795.1:n.511C>T
NM_000443.3:c.504C>T NP_000434.1:p.Asn168=
NM_018849.2:c.504C>T NP_061337.1:p.Asn168=
NM_018850.2:c.504C>T NP_061338.1:p.Asn168=
XM_011516308.1:c.504C>T XP_011514610.1:p.Asn168=
XM_011516309.1:c.504C>T XP_011514611.1:p.Asn168=
XM_011516310.1:c.504C>T XP_011514612.1:p.Asn168=
XM_011516311.1:c.504C>T XP_011514613.1:p.Asn168=
XM_011516312.1:c.504C>T XP_011514614.1:p.Asn168=
XM_011516313.1:c.504C>T XP_011514615.1:p.Asn168=
XM_011516314.1:c.525C>T XP_011514616.1:p.Asn175=
XM_011516315.1:c.-80C>T XP_011514617.1:p.=
XR_927478.1:n.600C>T
XM_011516308.3:c.774C>T XP_011514610.3:p.Asn258=
XM_011516309.3:c.774C>T XP_011514611.3:p.Asn258=
XM_011516310.3:c.774C>T XP_011514612.3:p.Asn258=
XM_011516311.3:c.774C>T XP_011514613.3:p.Asn258=
XM_011516312.3:c.774C>T XP_011514614.3:p.Asn258=
XM_011516313.3:c.774C>T XP_011514615.2:p.Asn258=
XM_011516315.3:c.-80C>T XP_011514617.2:p.=
XM_017012323.2:c.504C>T XP_016867812.1:p.Asn168=
XR_001744809.2:n.1275C>T
XR_001744810.2:n.1270C>T
NM_000443.4:c.504C>T MANE Select NP_000434.1:p.Asn168=
NM_018849.3:c.504C>T NP_061337.1:p.Asn168=
NM_018850.3:c.504C>T NP_061338.1:p.Asn168=