Canonical Allele Identifier: CA456358244

Gene: ABCB4

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.87417315T>C , CM000669.2:g.87417315T>C	GRCh38
NC_000007.13:g.87046631T>C , CM000669.1:g.87046631T>C	GRCh37
NC_000007.12:g.86884567T>C	NCBI36
NG_007118.1:g.68118A>G
NG_007118.2:g.68118A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000443.4:c.2679A>G MANE Select	NP_000434.1:p.Gly893=
ENST00000649586.2:c.2679A>G MANE Select	ENSP00000496956.2:p.Gly893=
NM_000443.3:c.2679A>G	NP_000434.1:p.Gly893=
NM_018849.2:c.2679A>G	NP_061337.1:p.Gly893=
NM_018849.3:c.2679A>G	NP_061337.1:p.Gly893=
NM_018850.2:c.2679A>G	NP_061338.1:p.Gly893=
NM_018850.3:c.2679A>G	NP_061338.1:p.Gly893=
ENST00000265723.8:c.2679A>G	ENSP00000265723.4:p.Gly893=
ENST00000358400.7:c.2679A>G	ENSP00000351172.3:p.Gly893=
ENST00000359206.7:c.2679A>G	ENSP00000352135.3:p.Gly893=
ENST00000359206.8:c.2679A>G	ENSP00000352135.3:p.Gly893=
ENST00000453593.5:c.2679A>G	ENSP00000392983.1:p.Gly893=
XM_011516308.1:c.2679A>G	XP_011514610.1:p.Gly893=
XM_011516308.3:c.2949A>G	XP_011514610.3:p.Gly983=
XM_011516309.1:c.2679A>G	XP_011514611.1:p.Gly893=
XM_011516309.3:c.2949A>G	XP_011514611.3:p.Gly983=
XM_011516310.1:c.2574A>G	XP_011514612.1:p.Gly858=
XM_011516310.3:c.2844A>G	XP_011514612.3:p.Gly948=
XM_011516311.1:c.2679A>G	XP_011514613.1:p.Gly893=
XM_011516311.3:c.2949A>G	XP_011514613.3:p.Gly983=
XM_011516312.1:c.2679A>G	XP_011514614.1:p.Gly893=
XM_011516312.3:c.2949A>G	XP_011514614.3:p.Gly983=
XM_011516313.1:c.2679A>G	XP_011514615.1:p.Gly893=
XM_011516313.3:c.2949A>G	XP_011514615.2:p.Gly983=
XM_011516314.1:c.2700A>G	XP_011514616.1:p.Gly900=
XM_011516315.1:c.2019A>G	XP_011514617.1:p.Gly673=
XM_011516315.3:c.2019A>G	XP_011514617.2:p.Gly673=
XM_017012323.2:c.2679A>G	XP_016867812.1:p.Gly893=
XR_001744809.2:n.3450A>G
XR_927478.1:n.2775A>G