Canonical Allele Identifier: CA4327180

Gene: ABCB4

Linked Data

• dbSNP Id: rs768385682
• ExAC: 7:87060695 G / GA
• gnomAD v2: 7-87060695-G-GA
• gnomAD v3: 7-87431379-G-GA
• gnomAD v4: 7-87431379-G-GA
• MyVariant Identifiers: chr7:g.87060695_87060696insA (hg19) ; chr7:g.87431379_87431380insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.87431385dup , CM000669.2:g.87431385dup	GRCh38
NC_000007.13:g.87060701dup , CM000669.1:g.87060701dup	GRCh37
NC_000007.12:g.86898637dup	NCBI36
NG_007118.1:g.54053dup
NG_007118.2:g.54053dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000359206.8:c.1893+24dup	ENSP00000352135.3:n.1893+24dup
ENST00000643670.1:c.1909+24dup	ENSP00000496629.1:n.1909+24dup
ENST00000644106.1:c.*1430+24dup	ENSP00000493477.1:n.*1430+24dup
ENST00000649586.2:c.1893+24dup MANE Select	ENSP00000496956.2:n.1893+24dup
ENST00000265723.8:c.1893+24dup	ENSP00000265723.4:n.1893+24dup
ENST00000358400.7:c.1893+24dup	ENSP00000351172.3:n.1893+24dup
ENST00000359206.7:c.1893+24dup	ENSP00000352135.3:n.1893+24dup
ENST00000453593.5:c.1893+24dup	ENSP00000392983.1:n.1893+24dup
ENST00000469770.1:n.97+24dup
NM_000443.3:c.1893+24dup	NP_000434.1:n.1893+24dup
NM_018849.2:c.1893+24dup	NP_061337.1:n.1893+24dup
NM_018850.2:c.1893+24dup	NP_061338.1:n.1893+24dup
XM_011516308.1:c.1893+24dup	XP_011514610.1:n.1893+24dup
XM_011516309.1:c.1893+24dup	XP_011514611.1:n.1893+24dup
XM_011516310.1:c.1893+24dup	XP_011514612.1:n.1893+24dup
XM_011516311.1:c.1893+24dup	XP_011514613.1:n.1893+24dup
XM_011516312.1:c.1893+24dup	XP_011514614.1:n.1893+24dup
XM_011516313.1:c.1893+24dup	XP_011514615.1:n.1893+24dup
XM_011516314.1:c.1914+24dup	XP_011514616.1:n.1914+24dup
XM_011516315.1:c.1233+24dup	XP_011514617.1:n.1233+24dup
XR_927478.1:n.1989+24dup
XM_011516308.3:c.2163+24dup	XP_011514610.3:n.2163+24dup
XM_011516309.3:c.2163+24dup	XP_011514611.3:n.2163+24dup
XM_011516310.3:c.2163+24dup	XP_011514612.3:n.2163+24dup
XM_011516311.3:c.2163+24dup	XP_011514613.3:n.2163+24dup
XM_011516312.3:c.2163+24dup	XP_011514614.3:n.2163+24dup
XM_011516313.3:c.2163+24dup	XP_011514615.2:n.2163+24dup
XM_011516315.3:c.1233+24dup	XP_011514617.2:n.1233+24dup
XM_017012323.2:c.1893+24dup	XP_016867812.1:n.1893+24dup
XR_001744809.2:n.2664+24dup
XR_001744810.2:n.2659+24dup
NM_000443.4:c.1893+24dup MANE Select	NP_000434.1:n.1893+24dup
NM_018849.3:c.1893+24dup	NP_061337.1:n.1893+24dup
NM_018850.3:c.1893+24dup	NP_061338.1:n.1893+24dup