Canonical Allele Identifier: CA4327470

Gene: ABCB4

Linked Data

• ClinVar Variation Id: 256166
• ClinVar RCV Id: RCV000247989 ; RCV000275204 ; RCV000385962 ; RCV002057360
• dbSNP Id: rs2109505
• ExAC: 7:87079406 T / A
• gnomAD v2: 7-87079406-T-A
• gnomAD v3: 7-87450090-T-A
• gnomAD v4: 7-87450090-T-A
• MyVariant Identifiers: chr7:g.87079406T>A (hg19) ; chr7:g.87450090T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.87450090T>A , CM000669.2:g.87450090T>A	GRCh38
NC_000007.13:g.87079406T>A , CM000669.1:g.87079406T>A	GRCh37
NC_000007.12:g.86917342T>A	NCBI36
NG_007118.1:g.35343A>T
NG_007118.2:g.35343A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000359206.8:c.711A>T	ENSP00000352135.3:p.Ile237=
ENST00000643670.1:c.654A>T	ENSP00000496629.1:p.Ile218=
ENST00000644106.1:c.*175A>T	ENSP00000493477.1:n.*175A>T
ENST00000649586.2:c.711A>T MANE Select	ENSP00000496956.2:p.Ile237=
ENST00000265723.8:c.711A>T	ENSP00000265723.4:p.Ile237=
ENST00000358400.7:c.711A>T	ENSP00000351172.3:p.Ile237=
ENST00000359206.7:c.711A>T	ENSP00000352135.3:p.Ile237=
ENST00000453593.5:c.711A>T	ENSP00000392983.1:p.Ile237=
NM_000443.3:c.711A>T	NP_000434.1:p.Ile237=
NM_018849.2:c.711A>T	NP_061337.1:p.Ile237=
NM_018850.2:c.711A>T	NP_061338.1:p.Ile237=
XM_011516308.1:c.711A>T	XP_011514610.1:p.Ile237=
XM_011516309.1:c.711A>T	XP_011514611.1:p.Ile237=
XM_011516310.1:c.711A>T	XP_011514612.1:p.Ile237=
XM_011516311.1:c.711A>T	XP_011514613.1:p.Ile237=
XM_011516312.1:c.711A>T	XP_011514614.1:p.Ile237=
XM_011516313.1:c.711A>T	XP_011514615.1:p.Ile237=
XM_011516314.1:c.732A>T	XP_011514616.1:p.Ile244=
XM_011516315.1:c.51A>T	XP_011514617.1:p.Ile17=
XR_927478.1:n.807A>T
XM_011516308.3:c.981A>T	XP_011514610.3:p.Ile327=
XM_011516309.3:c.981A>T	XP_011514611.3:p.Ile327=
XM_011516310.3:c.981A>T	XP_011514612.3:p.Ile327=
XM_011516311.3:c.981A>T	XP_011514613.3:p.Ile327=
XM_011516312.3:c.981A>T	XP_011514614.3:p.Ile327=
XM_011516313.3:c.981A>T	XP_011514615.2:p.Ile327=
XM_011516315.3:c.51A>T	XP_011514617.2:p.Ile17=
XM_017012323.2:c.711A>T	XP_016867812.1:p.Ile237=
XR_001744809.2:n.1482A>T
XR_001744810.2:n.1477A>T
NM_000443.4:c.711A>T MANE Select	NP_000434.1:p.Ile237=
NM_018849.3:c.711A>T	NP_061337.1:p.Ile237=
NM_018850.3:c.711A>T	NP_061338.1:p.Ile237=