Canonical Allele Identifier: CA456358477
Gene: ABCB4 HGNC NCBI

Linked Data

dbSNP Id: rs1584694547
MyVariant Identifiers: chr7:g.87046736T>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.87417420T>A , CM000669.2:g.87417420T>A GRCh38
NC_000007.13:g.87046736T>A , CM000669.1:g.87046736T>A GRCh37
NC_000007.12:g.86884672T>A NCBI36
NG_007118.1:g.68013A>T
NG_007118.2:g.68013A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000359206.8:c.2574A>T ENSP00000352135.3:p.Leu858=
ENST00000649586.2:c.2574A>T MANE Select ENSP00000496956.2:p.Leu858=
ENST00000265723.8:c.2574A>T ENSP00000265723.4:p.Leu858=
ENST00000358400.7:c.2574A>T ENSP00000351172.3:p.Leu858=
ENST00000359206.7:c.2574A>T ENSP00000352135.3:p.Leu858=
ENST00000453593.5:c.2574A>T ENSP00000392983.1:p.Leu858=
NM_000443.3:c.2574A>T NP_000434.1:p.Leu858=
NM_018849.2:c.2574A>T NP_061337.1:p.Leu858=
NM_018850.2:c.2574A>T NP_061338.1:p.Leu858=
XM_011516308.1:c.2574A>T XP_011514610.1:p.Leu858=
XM_011516309.1:c.2574A>T XP_011514611.1:p.Leu858=
XM_011516310.1:c.2469A>T XP_011514612.1:p.Leu823=
XM_011516311.1:c.2574A>T XP_011514613.1:p.Leu858=
XM_011516312.1:c.2574A>T XP_011514614.1:p.Leu858=
XM_011516313.1:c.2574A>T XP_011514615.1:p.Leu858=
XM_011516314.1:c.2595A>T XP_011514616.1:p.Leu865=
XM_011516315.1:c.1914A>T XP_011514617.1:p.Leu638=
XR_927478.1:n.2670A>T
XM_011516308.3:c.2844A>T XP_011514610.3:p.Leu948=
XM_011516309.3:c.2844A>T XP_011514611.3:p.Leu948=
XM_011516310.3:c.2739A>T XP_011514612.3:p.Leu913=
XM_011516311.3:c.2844A>T XP_011514613.3:p.Leu948=
XM_011516312.3:c.2844A>T XP_011514614.3:p.Leu948=
XM_011516313.3:c.2844A>T XP_011514615.2:p.Leu948=
XM_011516315.3:c.1914A>T XP_011514617.2:p.Leu638=
XM_017012323.2:c.2574A>T XP_016867812.1:p.Leu858=
XR_001744809.2:n.3345A>T
NM_000443.4:c.2574A>T MANE Select NP_000434.1:p.Leu858=
NM_018849.3:c.2574A>T NP_061337.1:p.Leu858=
NM_018850.3:c.2574A>T NP_061338.1:p.Leu858=