Canonical Allele Identifier: CA368048981

Gene: ABCB4

Linked Data

• dbSNP Id: rs1352747764
• gnomAD v2: 7-87076489-A-G
• gnomAD v3: 7-87447173-A-G
• gnomAD v4: 7-87447173-A-G
• MyVariant Identifiers: chr7:g.87076489A>G (hg19) ; chr7:g.87447173A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.87447173A>G , CM000669.2:g.87447173A>G	GRCh38
NC_000007.13:g.87076489A>G , CM000669.1:g.87076489A>G	GRCh37
NC_000007.12:g.86914425A>G	NCBI36
NG_007118.1:g.38260T>C
NG_007118.2:g.38260T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359206.8:c.866T>C	ENSP00000352135.3:p.Ile289Thr
ENST00000643670.1:c.882T>C	ENSP00000496629.1:n.882T>C
ENST00000644106.1:c.*403T>C	ENSP00000493477.1:n.*403T>C
ENST00000649586.2:c.866T>C MANE Select	ENSP00000496956.2:p.Ile289Thr
ENST00000265723.8:c.866T>C	ENSP00000265723.4:p.Ile289Thr
ENST00000358400.7:c.866T>C	ENSP00000351172.3:p.Ile289Thr
ENST00000359206.7:c.866T>C	ENSP00000352135.3:p.Ile289Thr
ENST00000453593.5:c.866T>C	ENSP00000392983.1:p.Ile289Thr
NM_000443.3:c.866T>C	NP_000434.1:p.Ile289Thr
NM_018849.2:c.866T>C	NP_061337.1:p.Ile289Thr
NM_018850.2:c.866T>C	NP_061338.1:p.Ile289Thr
XM_011516308.1:c.866T>C	XP_011514610.1:p.Ile289Thr
XM_011516309.1:c.866T>C	XP_011514611.1:p.Ile289Thr
XM_011516310.1:c.866T>C	XP_011514612.1:p.Ile289Thr
XM_011516311.1:c.866T>C	XP_011514613.1:p.Ile289Thr
XM_011516312.1:c.866T>C	XP_011514614.1:p.Ile289Thr
XM_011516313.1:c.866T>C	XP_011514615.1:p.Ile289Thr
XM_011516314.1:c.887T>C	XP_011514616.1:p.Ile296Thr
XM_011516315.1:c.206T>C	XP_011514617.1:p.Ile69Thr
XR_927478.1:n.962T>C
XM_011516308.3:c.1136T>C	XP_011514610.3:p.Ile379Thr
XM_011516309.3:c.1136T>C	XP_011514611.3:p.Ile379Thr
XM_011516310.3:c.1136T>C	XP_011514612.3:p.Ile379Thr
XM_011516311.3:c.1136T>C	XP_011514613.3:p.Ile379Thr
XM_011516312.3:c.1136T>C	XP_011514614.3:p.Ile379Thr
XM_011516313.3:c.1136T>C	XP_011514615.2:p.Ile379Thr
XM_011516315.3:c.206T>C	XP_011514617.2:p.Ile69Thr
XM_017012323.2:c.866T>C	XP_016867812.1:p.Ile289Thr
XR_001744809.2:n.1637T>C
XR_001744810.2:n.1632T>C
NM_000443.4:c.866T>C MANE Select	NP_000434.1:p.Ile289Thr
NM_018849.3:c.866T>C	NP_061337.1:p.Ile289Thr
NM_018850.3:c.866T>C	NP_061338.1:p.Ile289Thr