Canonical Allele Identifier: CA456351096
Gene: ABCB4 HGNC NCBI

Linked Data

MyVariant Identifiers: chr7:g.87076500A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.87447184A>G , CM000669.2:g.87447184A>G GRCh38
NC_000007.13:g.87076500A>G , CM000669.1:g.87076500A>G GRCh37
NC_000007.12:g.86914436A>G NCBI36
NG_007118.1:g.38249T>C
NG_007118.2:g.38249T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000359206.8:c.855T>C ENSP00000352135.3:p.Asn285=
ENST00000643670.1:c.871T>C ENSP00000496629.1:n.871T>C
ENST00000644106.1:c.*392T>C ENSP00000493477.1:n.*392T>C
ENST00000649586.2:c.855T>C MANE Select ENSP00000496956.2:p.Asn285=
ENST00000265723.8:c.855T>C ENSP00000265723.4:p.Asn285=
ENST00000358400.7:c.855T>C ENSP00000351172.3:p.Asn285=
ENST00000359206.7:c.855T>C ENSP00000352135.3:p.Asn285=
ENST00000453593.5:c.855T>C ENSP00000392983.1:p.Asn285=
NM_000443.3:c.855T>C NP_000434.1:p.Asn285=
NM_018849.2:c.855T>C NP_061337.1:p.Asn285=
NM_018850.2:c.855T>C NP_061338.1:p.Asn285=
XM_011516308.1:c.855T>C XP_011514610.1:p.Asn285=
XM_011516309.1:c.855T>C XP_011514611.1:p.Asn285=
XM_011516310.1:c.855T>C XP_011514612.1:p.Asn285=
XM_011516311.1:c.855T>C XP_011514613.1:p.Asn285=
XM_011516312.1:c.855T>C XP_011514614.1:p.Asn285=
XM_011516313.1:c.855T>C XP_011514615.1:p.Asn285=
XM_011516314.1:c.876T>C XP_011514616.1:p.Asn292=
XM_011516315.1:c.195T>C XP_011514617.1:p.Asn65=
XR_927478.1:n.951T>C
XM_011516308.3:c.1125T>C XP_011514610.3:p.Asn375=
XM_011516309.3:c.1125T>C XP_011514611.3:p.Asn375=
XM_011516310.3:c.1125T>C XP_011514612.3:p.Asn375=
XM_011516311.3:c.1125T>C XP_011514613.3:p.Asn375=
XM_011516312.3:c.1125T>C XP_011514614.3:p.Asn375=
XM_011516313.3:c.1125T>C XP_011514615.2:p.Asn375=
XM_011516315.3:c.195T>C XP_011514617.2:p.Asn65=
XM_017012323.2:c.855T>C XP_016867812.1:p.Asn285=
XR_001744809.2:n.1626T>C
XR_001744810.2:n.1621T>C
NM_000443.4:c.855T>C MANE Select NP_000434.1:p.Asn285=
NM_018849.3:c.855T>C NP_061337.1:p.Asn285=
NM_018850.3:c.855T>C NP_061338.1:p.Asn285=