Canonical Allele Identifier: CA368038598

Gene: ABCB4

Linked Data

• ClinVar Variation Id: 2687819
• ClinVar RCV Id: RCV003485977
• gnomAD v4: 7-87439764-C-T
• COSMIC: COSM485668 ; COSM4873893
• MyVariant Identifiers: chr7:g.87069080C>T (hg19) ; chr7:g.87439764C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.87439764C>T , CM000669.2:g.87439764C>T	GRCh38
NC_000007.13:g.87069080C>T , CM000669.1:g.87069080C>T	GRCh37
NC_000007.12:g.86907016C>T	NCBI36
NG_007118.1:g.45669G>A
NG_007118.2:g.45669G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000359206.8:c.1634G>A	ENSP00000352135.3:p.Arg545His
ENST00000643670.1:c.1650G>A	ENSP00000496629.1:n.1650G>A
ENST00000644106.1:c.*1171G>A	ENSP00000493477.1:n.*1171G>A
ENST00000649586.2:c.1634G>A MANE Select	ENSP00000496956.2:p.Arg545His
ENST00000265723.8:c.1634G>A	ENSP00000265723.4:p.Arg545His
ENST00000358400.7:c.1634G>A	ENSP00000351172.3:p.Arg545His
ENST00000359206.7:c.1634G>A	ENSP00000352135.3:p.Arg545His
ENST00000453593.5:c.1634G>A	ENSP00000392983.1:p.Arg545His
NM_000443.3:c.1634G>A	NP_000434.1:p.Arg545His
NM_018849.2:c.1634G>A	NP_061337.1:p.Arg545His
NM_018850.2:c.1634G>A	NP_061338.1:p.Arg545His
XM_011516308.1:c.1634G>A	XP_011514610.1:p.Arg545His
XM_011516309.1:c.1634G>A	XP_011514611.1:p.Arg545His
XM_011516310.1:c.1634G>A	XP_011514612.1:p.Arg545His
XM_011516311.1:c.1634G>A	XP_011514613.1:p.Arg545His
XM_011516312.1:c.1634G>A	XP_011514614.1:p.Arg545His
XM_011516313.1:c.1634G>A	XP_011514615.1:p.Arg545His
XM_011516314.1:c.1655G>A	XP_011514616.1:p.Arg552His
XM_011516315.1:c.974G>A	XP_011514617.1:p.Arg325His
XR_927478.1:n.1730G>A
XM_011516308.3:c.1904G>A	XP_011514610.3:p.Arg635His
XM_011516309.3:c.1904G>A	XP_011514611.3:p.Arg635His
XM_011516310.3:c.1904G>A	XP_011514612.3:p.Arg635His
XM_011516311.3:c.1904G>A	XP_011514613.3:p.Arg635His
XM_011516312.3:c.1904G>A	XP_011514614.3:p.Arg635His
XM_011516313.3:c.1904G>A	XP_011514615.2:p.Arg635His
XM_011516315.3:c.974G>A	XP_011514617.2:p.Arg325His
XM_017012323.2:c.1634G>A	XP_016867812.1:p.Arg545His
XR_001744809.2:n.2405G>A
XR_001744810.2:n.2400G>A
NM_000443.4:c.1634G>A MANE Select	NP_000434.1:p.Arg545His
NM_018849.3:c.1634G>A	NP_061337.1:p.Arg545His
NM_018850.3:c.1634G>A	NP_061338.1:p.Arg545His