Canonical Allele Identifier: CA368030606

Gene: ABCB4

Linked Data

• ClinVar Variation Id: 2498173
• ClinVar RCV Id: RCV003326046
• gnomAD v4: 7-87423917-C-A
• MyVariant Identifiers: chr7:g.87053233C>A (hg19) ; chr7:g.87423917C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.87423917C>A , CM000669.2:g.87423917C>A	GRCh38
NC_000007.13:g.87053233C>A , CM000669.1:g.87053233C>A	GRCh37
NC_000007.12:g.86891169C>A	NCBI36
NG_007118.1:g.61516G>T
NG_007118.2:g.61516G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000359206.8:c.2200G>T	ENSP00000352135.3:p.Glu734Ter
ENST00000643670.1:c.2216G>T	ENSP00000496629.1:n.2216G>T
ENST00000649586.2:c.2200G>T MANE Select	ENSP00000496956.2:p.Glu734Ter
ENST00000265723.8:c.2200G>T	ENSP00000265723.4:p.Glu734Ter
ENST00000358400.7:c.2200G>T	ENSP00000351172.3:p.Glu734Ter
ENST00000359206.7:c.2200G>T	ENSP00000352135.3:p.Glu734Ter
ENST00000453593.5:c.2200G>T	ENSP00000392983.1:p.Glu734Ter
ENST00000469770.1:n.404G>T
NM_000443.3:c.2200G>T	NP_000434.1:p.Glu734Ter
NM_018849.2:c.2200G>T	NP_061337.1:p.Glu734Ter
NM_018850.2:c.2200G>T	NP_061338.1:p.Glu734Ter
XM_011516308.1:c.2200G>T	XP_011514610.1:p.Glu734Ter
XM_011516309.1:c.2200G>T	XP_011514611.1:p.Glu734Ter
XM_011516310.1:c.2200G>T	XP_011514612.1:p.Glu734Ter
XM_011516311.1:c.2200G>T	XP_011514613.1:p.Glu734Ter
XM_011516312.1:c.2200G>T	XP_011514614.1:p.Glu734Ter
XM_011516313.1:c.2200G>T	XP_011514615.1:p.Glu734Ter
XM_011516314.1:c.2221G>T	XP_011514616.1:p.Glu741Ter
XM_011516315.1:c.1540G>T	XP_011514617.1:p.Glu514Ter
XR_927478.1:n.2296G>T
XM_011516308.3:c.2470G>T	XP_011514610.3:p.Glu824Ter
XM_011516309.3:c.2470G>T	XP_011514611.3:p.Glu824Ter
XM_011516310.3:c.2470G>T	XP_011514612.3:p.Glu824Ter
XM_011516311.3:c.2470G>T	XP_011514613.3:p.Glu824Ter
XM_011516312.3:c.2470G>T	XP_011514614.3:p.Glu824Ter
XM_011516313.3:c.2470G>T	XP_011514615.2:p.Glu824Ter
XM_011516315.3:c.1540G>T	XP_011514617.2:p.Glu514Ter
XM_017012323.2:c.2200G>T	XP_016867812.1:p.Glu734Ter
XR_001744809.2:n.2971G>T
XR_001744810.2:n.2966G>T
NM_000443.4:c.2200G>T MANE Select	NP_000434.1:p.Glu734Ter
NM_018849.3:c.2200G>T	NP_061337.1:p.Glu734Ter
NM_018850.3:c.2200G>T	NP_061338.1:p.Glu734Ter