Canonical Allele Identifier: CA4327112

Gene: ABCB4

Linked Data

• ClinVar Variation Id: 381720
• ClinVar RCV Id: RCV000724634 ; RCV000987908 ; RCV001161452 ; RCV001162981 ; RCV004533002
• dbSNP Id: rs138773456
• ExAC: 7:87053289 G / A
• gnomAD v2: 7-87053289-G-A
• gnomAD v3: 7-87423973-G-A
• gnomAD v4: 7-87423973-G-A
• MyVariant Identifiers: chr7:g.87053289G>A (hg19) ; chr7:g.87423973G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.87423973G>A , CM000669.2:g.87423973G>A	GRCh38
NC_000007.13:g.87053289G>A , CM000669.1:g.87053289G>A	GRCh37
NC_000007.12:g.86891225G>A	NCBI36
NG_007118.1:g.61460C>T
NG_007118.2:g.61460C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359206.8:c.2144C>T	ENSP00000352135.3:p.Thr715Ile
ENST00000643670.1:c.2160C>T	ENSP00000496629.1:n.2160C>T
ENST00000649586.2:c.2144C>T MANE Select	ENSP00000496956.2:p.Thr715Ile
ENST00000265723.8:c.2144C>T	ENSP00000265723.4:p.Thr715Ile
ENST00000358400.7:c.2144C>T	ENSP00000351172.3:p.Thr715Ile
ENST00000359206.7:c.2144C>T	ENSP00000352135.3:p.Thr715Ile
ENST00000453593.5:c.2144C>T	ENSP00000392983.1:p.Thr715Ile
ENST00000469770.1:n.348C>T
NM_000443.3:c.2144C>T	NP_000434.1:p.Thr715Ile
NM_018849.2:c.2144C>T	NP_061337.1:p.Thr715Ile
NM_018850.2:c.2144C>T	NP_061338.1:p.Thr715Ile
XM_011516308.1:c.2144C>T	XP_011514610.1:p.Thr715Ile
XM_011516309.1:c.2144C>T	XP_011514611.1:p.Thr715Ile
XM_011516310.1:c.2144C>T	XP_011514612.1:p.Thr715Ile
XM_011516311.1:c.2144C>T	XP_011514613.1:p.Thr715Ile
XM_011516312.1:c.2144C>T	XP_011514614.1:p.Thr715Ile
XM_011516313.1:c.2144C>T	XP_011514615.1:p.Thr715Ile
XM_011516314.1:c.2165C>T	XP_011514616.1:p.Thr722Ile
XM_011516315.1:c.1484C>T	XP_011514617.1:p.Thr495Ile
XR_927478.1:n.2240C>T
XM_011516308.3:c.2414C>T	XP_011514610.3:p.Thr805Ile
XM_011516309.3:c.2414C>T	XP_011514611.3:p.Thr805Ile
XM_011516310.3:c.2414C>T	XP_011514612.3:p.Thr805Ile
XM_011516311.3:c.2414C>T	XP_011514613.3:p.Thr805Ile
XM_011516312.3:c.2414C>T	XP_011514614.3:p.Thr805Ile
XM_011516313.3:c.2414C>T	XP_011514615.2:p.Thr805Ile
XM_011516315.3:c.1484C>T	XP_011514617.2:p.Thr495Ile
XM_017012323.2:c.2144C>T	XP_016867812.1:p.Thr715Ile
XR_001744809.2:n.2915C>T
XR_001744810.2:n.2910C>T
NM_000443.4:c.2144C>T MANE Select	NP_000434.1:p.Thr715Ile
NM_018849.3:c.2144C>T	NP_061337.1:p.Thr715Ile
NM_018850.3:c.2144C>T	NP_061338.1:p.Thr715Ile