Canonical Allele Identifier: CA368056760

Gene: ABCB4

Linked Data

• gnomAD v4: 7-87402194-C-T
• MyVariant Identifiers: chr7:g.87031510C>T (hg19) ; chr7:g.87402194C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.87402194C>T , CM000669.2:g.87402194C>T	GRCh38
NC_000007.13:g.87031510C>T , CM000669.1:g.87031510C>T	GRCh37
NC_000007.12:g.86869446C>T	NCBI36
NG_007118.1:g.83239G>A
NG_007118.2:g.83239G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359206.8:c.3742G>A	ENSP00000352135.3:p.Gly1248Arg
ENST00000649586.2:c.3742G>A MANE Select	ENSP00000496956.2:p.Gly1248Arg
ENST00000265723.8:c.3763G>A	ENSP00000265723.4:p.Gly1255Arg
ENST00000358400.7:c.3601G>A	ENSP00000351172.3:p.Gly1201Arg
ENST00000359206.7:c.3742G>A	ENSP00000352135.3:p.Gly1248Arg
ENST00000440025.1:c.176G>A
ENST00000453593.5:c.3601G>A	ENSP00000392983.1:p.Gly1201Arg
ENST00000467983.1:n.354G>A
NM_000443.3:c.3742G>A	NP_000434.1:p.Gly1248Arg
NM_018849.2:c.3763G>A	NP_061337.1:p.Gly1255Arg
NM_018850.2:c.3601G>A	NP_061338.1:p.Gly1201Arg
XM_011516308.1:c.3763G>A	XP_011514610.1:p.Gly1255Arg
XM_011516309.1:c.3742G>A	XP_011514611.1:p.Gly1248Arg
XM_011516310.1:c.3658G>A	XP_011514612.1:p.Gly1220Arg
XM_011516311.1:c.3634G>A	XP_011514613.1:p.Gly1212Arg
XM_011516312.1:c.3622G>A	XP_011514614.1:p.Gly1208Arg
XM_011516313.1:c.3601G>A	XP_011514615.1:p.Gly1201Arg
XM_011516314.1:c.3784G>A	XP_011514616.1:p.Gly1262Arg
XM_011516315.1:c.3103G>A	XP_011514617.1:p.Gly1035Arg
XM_011516308.3:c.4033G>A	XP_011514610.3:p.Gly1345Arg
XM_011516309.3:c.4012G>A	XP_011514611.3:p.Gly1338Arg
XM_011516310.3:c.3928G>A	XP_011514612.3:p.Gly1310Arg
XM_011516311.3:c.3904G>A	XP_011514613.3:p.Gly1302Arg
XM_011516312.3:c.3892G>A	XP_011514614.3:p.Gly1298Arg
XM_011516313.3:c.3871G>A	XP_011514615.2:p.Gly1291Arg
XM_011516315.3:c.3103G>A	XP_011514617.2:p.Gly1035Arg
XM_017012323.2:c.3763G>A	XP_016867812.1:p.Gly1255Arg
XR_001744809.2:n.4271G>A
NM_000443.4:c.3742G>A MANE Select	NP_000434.1:p.Gly1248Arg
NM_018849.3:c.3763G>A	NP_061337.1:p.Gly1255Arg
NM_018850.3:c.3601G>A	NP_061338.1:p.Gly1201Arg