Canonical Allele Identifier: CA368048278

Gene: ABCB4

Linked Data

• gnomAD v4: 7-87447036-T-A
• MyVariant Identifiers: chr7:g.87076352T>A (hg19) ; chr7:g.87447036T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.87447036T>A , CM000669.2:g.87447036T>A	GRCh38
NC_000007.13:g.87076352T>A , CM000669.1:g.87076352T>A	GRCh37
NC_000007.12:g.86914288T>A	NCBI36
NG_007118.1:g.38397A>T
NG_007118.2:g.38397A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359206.8:c.1003A>T	ENSP00000352135.3:p.Thr335Ser
ENST00000643670.1:c.1019A>T	ENSP00000496629.1:n.1019A>T
ENST00000644106.1:c.*540A>T	ENSP00000493477.1:n.*540A>T
ENST00000649586.2:c.1003A>T MANE Select	ENSP00000496956.2:p.Thr335Ser
ENST00000265723.8:c.1003A>T	ENSP00000265723.4:p.Thr335Ser
ENST00000358400.7:c.1003A>T	ENSP00000351172.3:p.Thr335Ser
ENST00000359206.7:c.1003A>T	ENSP00000352135.3:p.Thr335Ser
ENST00000453593.5:c.1003A>T	ENSP00000392983.1:p.Thr335Ser
NM_000443.3:c.1003A>T	NP_000434.1:p.Thr335Ser
NM_018849.2:c.1003A>T	NP_061337.1:p.Thr335Ser
NM_018850.2:c.1003A>T	NP_061338.1:p.Thr335Ser
XM_011516308.1:c.1003A>T	XP_011514610.1:p.Thr335Ser
XM_011516309.1:c.1003A>T	XP_011514611.1:p.Thr335Ser
XM_011516310.1:c.1003A>T	XP_011514612.1:p.Thr335Ser
XM_011516311.1:c.1003A>T	XP_011514613.1:p.Thr335Ser
XM_011516312.1:c.1003A>T	XP_011514614.1:p.Thr335Ser
XM_011516313.1:c.1003A>T	XP_011514615.1:p.Thr335Ser
XM_011516314.1:c.1024A>T	XP_011514616.1:p.Thr342Ser
XM_011516315.1:c.343A>T	XP_011514617.1:p.Thr115Ser
XR_927478.1:n.1099A>T
XM_011516308.3:c.1273A>T	XP_011514610.3:p.Thr425Ser
XM_011516309.3:c.1273A>T	XP_011514611.3:p.Thr425Ser
XM_011516310.3:c.1273A>T	XP_011514612.3:p.Thr425Ser
XM_011516311.3:c.1273A>T	XP_011514613.3:p.Thr425Ser
XM_011516312.3:c.1273A>T	XP_011514614.3:p.Thr425Ser
XM_011516313.3:c.1273A>T	XP_011514615.2:p.Thr425Ser
XM_011516315.3:c.343A>T	XP_011514617.2:p.Thr115Ser
XM_017012323.2:c.1003A>T	XP_016867812.1:p.Thr335Ser
XR_001744809.2:n.1774A>T
XR_001744810.2:n.1769A>T
NM_000443.4:c.1003A>T MANE Select	NP_000434.1:p.Thr335Ser
NM_018849.3:c.1003A>T	NP_061337.1:p.Thr335Ser
NM_018850.3:c.1003A>T	NP_061338.1:p.Thr335Ser