Canonical Allele Identifier: CA4327441

Gene: ABCB4

Linked Data

• dbSNP Id: rs757307439
• ExAC: 7:87076548 T / TTATA
• gnomAD v2: 7-87076548-T-TTATA
• gnomAD v3: 7-87447232-T-TTATA
• gnomAD v4: 7-87447232-T-TTATA
• MyVariant Identifiers: chr7:g.87076548_87076549insTATA (hg19) ; chr7:g.87447232_87447233insTATA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.87447233_87447236dup , CM000669.2:g.87447233_87447236dup	GRCh38
NC_000007.13:g.87076549_87076552dup , CM000669.1:g.87076549_87076552dup	GRCh37
NC_000007.12:g.86914485_86914488dup	NCBI36
NG_007118.1:g.38197_38200dup
NG_007118.2:g.38197_38200dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359206.8:c.834-31_834-28dup	ENSP00000352135.3:n.834-31_834-28dup
ENST00000643670.1:c.850-31_850-28dup	ENSP00000496629.1:n.850-31_850-28dup
ENST00000644106.1:c.*371-31_*371-28dup	ENSP00000493477.1:n.*371-31_*371-28dup
ENST00000649586.2:c.834-31_834-28dup MANE Select	ENSP00000496956.2:n.834-31_834-28dup
ENST00000265723.8:c.834-31_834-28dup	ENSP00000265723.4:n.834-31_834-28dup
ENST00000358400.7:c.834-31_834-28dup	ENSP00000351172.3:n.834-31_834-28dup
ENST00000359206.7:c.834-31_834-28dup	ENSP00000352135.3:n.834-31_834-28dup
ENST00000453593.5:c.834-31_834-28dup	ENSP00000392983.1:n.834-31_834-28dup
NM_000443.3:c.834-31_834-28dup	NP_000434.1:n.834-31_834-28dup
NM_018849.2:c.834-31_834-28dup	NP_061337.1:n.834-31_834-28dup
NM_018850.2:c.834-31_834-28dup	NP_061338.1:n.834-31_834-28dup
XM_011516308.1:c.834-31_834-28dup	XP_011514610.1:n.834-31_834-28dup
XM_011516309.1:c.834-31_834-28dup	XP_011514611.1:n.834-31_834-28dup
XM_011516310.1:c.834-31_834-28dup	XP_011514612.1:n.834-31_834-28dup
XM_011516311.1:c.834-31_834-28dup	XP_011514613.1:n.834-31_834-28dup
XM_011516312.1:c.834-31_834-28dup	XP_011514614.1:n.834-31_834-28dup
XM_011516313.1:c.834-31_834-28dup	XP_011514615.1:n.834-31_834-28dup
XM_011516314.1:c.855-31_855-28dup	XP_011514616.1:n.855-31_855-28dup
XM_011516315.1:c.174-31_174-28dup	XP_011514617.1:n.174-31_174-28dup
XR_927478.1:n.930-31_930-28dup
XM_011516308.3:c.1104-31_1104-28dup	XP_011514610.3:n.1104-31_1104-28dup
XM_011516309.3:c.1104-31_1104-28dup	XP_011514611.3:n.1104-31_1104-28dup
XM_011516310.3:c.1104-31_1104-28dup	XP_011514612.3:n.1104-31_1104-28dup
XM_011516311.3:c.1104-31_1104-28dup	XP_011514613.3:n.1104-31_1104-28dup
XM_011516312.3:c.1104-31_1104-28dup	XP_011514614.3:n.1104-31_1104-28dup
XM_011516313.3:c.1104-31_1104-28dup	XP_011514615.2:n.1104-31_1104-28dup
XM_011516315.3:c.174-31_174-28dup	XP_011514617.2:n.174-31_174-28dup
XM_017012323.2:c.834-31_834-28dup	XP_016867812.1:n.834-31_834-28dup
XR_001744809.2:n.1605-31_1605-28dup
XR_001744810.2:n.1600-31_1600-28dup
NM_000443.4:c.834-31_834-28dup MANE Select	NP_000434.1:n.834-31_834-28dup
NM_018849.3:c.834-31_834-28dup	NP_061337.1:n.834-31_834-28dup
NM_018850.3:c.834-31_834-28dup	NP_061338.1:n.834-31_834-28dup