Canonical Allele Identifier: CA368038492

Gene: ABCB4

Linked Data

• dbSNP Id: rs761238221
• gnomAD v2: 7-87069068-C-A
• gnomAD v4: 7-87439752-C-A
• MyVariant Identifiers: chr7:g.87069068C>A (hg19) ; chr7:g.87439752C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.87439752C>A , CM000669.2:g.87439752C>A	GRCh38
NC_000007.13:g.87069068C>A , CM000669.1:g.87069068C>A	GRCh37
NC_000007.12:g.86907004C>A	NCBI36
NG_007118.1:g.45681G>T
NG_007118.2:g.45681G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359206.8:c.1646G>T	ENSP00000352135.3:p.Arg549Leu
ENST00000643670.1:c.1662G>T	ENSP00000496629.1:n.1662G>T
ENST00000644106.1:c.*1183G>T	ENSP00000493477.1:n.*1183G>T
ENST00000649586.2:c.1646G>T MANE Select	ENSP00000496956.2:p.Arg549Leu
ENST00000265723.8:c.1646G>T	ENSP00000265723.4:p.Arg549Leu
ENST00000358400.7:c.1646G>T	ENSP00000351172.3:p.Arg549Leu
ENST00000359206.7:c.1646G>T	ENSP00000352135.3:p.Arg549Leu
ENST00000453593.5:c.1646G>T	ENSP00000392983.1:p.Arg549Leu
NM_000443.3:c.1646G>T	NP_000434.1:p.Arg549Leu
NM_018849.2:c.1646G>T	NP_061337.1:p.Arg549Leu
NM_018850.2:c.1646G>T	NP_061338.1:p.Arg549Leu
XM_011516308.1:c.1646G>T	XP_011514610.1:p.Arg549Leu
XM_011516309.1:c.1646G>T	XP_011514611.1:p.Arg549Leu
XM_011516310.1:c.1646G>T	XP_011514612.1:p.Arg549Leu
XM_011516311.1:c.1646G>T	XP_011514613.1:p.Arg549Leu
XM_011516312.1:c.1646G>T	XP_011514614.1:p.Arg549Leu
XM_011516313.1:c.1646G>T	XP_011514615.1:p.Arg549Leu
XM_011516314.1:c.1667G>T	XP_011514616.1:p.Arg556Leu
XM_011516315.1:c.986G>T	XP_011514617.1:p.Arg329Leu
XR_927478.1:n.1742G>T
XM_011516308.3:c.1916G>T	XP_011514610.3:p.Arg639Leu
XM_011516309.3:c.1916G>T	XP_011514611.3:p.Arg639Leu
XM_011516310.3:c.1916G>T	XP_011514612.3:p.Arg639Leu
XM_011516311.3:c.1916G>T	XP_011514613.3:p.Arg639Leu
XM_011516312.3:c.1916G>T	XP_011514614.3:p.Arg639Leu
XM_011516313.3:c.1916G>T	XP_011514615.2:p.Arg639Leu
XM_011516315.3:c.986G>T	XP_011514617.2:p.Arg329Leu
XM_017012323.2:c.1646G>T	XP_016867812.1:p.Arg549Leu
XR_001744809.2:n.2417G>T
XR_001744810.2:n.2412G>T
NM_000443.4:c.1646G>T MANE Select	NP_000434.1:p.Arg549Leu
NM_018849.3:c.1646G>T	NP_061337.1:p.Arg549Leu
NM_018850.3:c.1646G>T	NP_061338.1:p.Arg549Leu