Canonical Allele Identifier: CA4327213

Gene: ABCB4

Linked Data

• ClinVar Variation Id: 802327
• ClinVar RCV Id: RCV000987910 ; RCV003158272
• dbSNP Id: rs760153272
• ExAC: 7:87060868 C / T
• gnomAD v2: 7-87060868-C-T
• gnomAD v3: 7-87431552-C-T
• gnomAD v4: 7-87431552-C-T
• MyVariant Identifiers: chr7:g.87060868C>T (hg19) ; chr7:g.87431552C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.87431552C>T , CM000669.2:g.87431552C>T	GRCh38
NC_000007.13:g.87060868C>T , CM000669.1:g.87060868C>T	GRCh37
NC_000007.12:g.86898804C>T	NCBI36
NG_007118.1:g.53881G>A
NG_007118.2:g.53881G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000359206.8:c.1745G>A	ENSP00000352135.3:p.Arg582Gln
ENST00000643670.1:c.1761G>A	ENSP00000496629.1:n.1761G>A
ENST00000644106.1:c.*1282G>A	ENSP00000493477.1:n.*1282G>A
ENST00000649586.2:c.1745G>A MANE Select	ENSP00000496956.2:p.Arg582Gln
ENST00000265723.8:c.1745G>A	ENSP00000265723.4:p.Arg582Gln
ENST00000358400.7:c.1745G>A	ENSP00000351172.3:p.Arg582Gln
ENST00000359206.7:c.1745G>A	ENSP00000352135.3:p.Arg582Gln
ENST00000453593.5:c.1745G>A	ENSP00000392983.1:p.Arg582Gln
NM_000443.3:c.1745G>A	NP_000434.1:p.Arg582Gln
NM_018849.2:c.1745G>A	NP_061337.1:p.Arg582Gln
NM_018850.2:c.1745G>A	NP_061338.1:p.Arg582Gln
XM_011516308.1:c.1745G>A	XP_011514610.1:p.Arg582Gln
XM_011516309.1:c.1745G>A	XP_011514611.1:p.Arg582Gln
XM_011516310.1:c.1745G>A	XP_011514612.1:p.Arg582Gln
XM_011516311.1:c.1745G>A	XP_011514613.1:p.Arg582Gln
XM_011516312.1:c.1745G>A	XP_011514614.1:p.Arg582Gln
XM_011516313.1:c.1745G>A	XP_011514615.1:p.Arg582Gln
XM_011516314.1:c.1766G>A	XP_011514616.1:p.Arg589Gln
XM_011516315.1:c.1085G>A	XP_011514617.1:p.Arg362Gln
XR_927478.1:n.1841G>A
XM_011516308.3:c.2015G>A	XP_011514610.3:p.Arg672Gln
XM_011516309.3:c.2015G>A	XP_011514611.3:p.Arg672Gln
XM_011516310.3:c.2015G>A	XP_011514612.3:p.Arg672Gln
XM_011516311.3:c.2015G>A	XP_011514613.3:p.Arg672Gln
XM_011516312.3:c.2015G>A	XP_011514614.3:p.Arg672Gln
XM_011516313.3:c.2015G>A	XP_011514615.2:p.Arg672Gln
XM_011516315.3:c.1085G>A	XP_011514617.2:p.Arg362Gln
XM_017012323.2:c.1745G>A	XP_016867812.1:p.Arg582Gln
XR_001744809.2:n.2516G>A
XR_001744810.2:n.2511G>A
NM_000443.4:c.1745G>A MANE Select	NP_000434.1:p.Arg582Gln
NM_018849.3:c.1745G>A	NP_061337.1:p.Arg582Gln
NM_018850.3:c.1745G>A	NP_061338.1:p.Arg582Gln