Canonical Allele Identifier: CA368056819

Gene: ABCB4

Linked Data

• MyVariant Identifiers: chr7:g.87031534C>A (hg19) ; chr7:g.87402218C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.87402218C>A , CM000669.2:g.87402218C>A	GRCh38
NC_000007.13:g.87031534C>A , CM000669.1:g.87031534C>A	GRCh37
NC_000007.12:g.86869470C>A	NCBI36
NG_007118.1:g.83215G>T
NG_007118.2:g.83215G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359206.8:c.3718G>T	ENSP00000352135.3:p.Asp1240Tyr
ENST00000649586.2:c.3718G>T MANE Select	ENSP00000496956.2:p.Asp1240Tyr
ENST00000265723.8:c.3739G>T	ENSP00000265723.4:p.Asp1247Tyr
ENST00000358400.7:c.3577G>T	ENSP00000351172.3:p.Asp1193Tyr
ENST00000359206.7:c.3718G>T	ENSP00000352135.3:p.Asp1240Tyr
ENST00000440025.1:c.152G>T
ENST00000453593.5:c.3577G>T	ENSP00000392983.1:p.Asp1193Tyr
ENST00000467983.1:n.330G>T
NM_000443.3:c.3718G>T	NP_000434.1:p.Asp1240Tyr
NM_018849.2:c.3739G>T	NP_061337.1:p.Asp1247Tyr
NM_018850.2:c.3577G>T	NP_061338.1:p.Asp1193Tyr
XM_011516308.1:c.3739G>T	XP_011514610.1:p.Asp1247Tyr
XM_011516309.1:c.3718G>T	XP_011514611.1:p.Asp1240Tyr
XM_011516310.1:c.3634G>T	XP_011514612.1:p.Asp1212Tyr
XM_011516311.1:c.3610G>T	XP_011514613.1:p.Asp1204Tyr
XM_011516312.1:c.3598G>T	XP_011514614.1:p.Asp1200Tyr
XM_011516313.1:c.3577G>T	XP_011514615.1:p.Asp1193Tyr
XM_011516314.1:c.3760G>T	XP_011514616.1:p.Asp1254Tyr
XM_011516315.1:c.3079G>T	XP_011514617.1:p.Asp1027Tyr
XM_011516308.3:c.4009G>T	XP_011514610.3:p.Asp1337Tyr
XM_011516309.3:c.3988G>T	XP_011514611.3:p.Asp1330Tyr
XM_011516310.3:c.3904G>T	XP_011514612.3:p.Asp1302Tyr
XM_011516311.3:c.3880G>T	XP_011514613.3:p.Asp1294Tyr
XM_011516312.3:c.3868G>T	XP_011514614.3:p.Asp1290Tyr
XM_011516313.3:c.3847G>T	XP_011514615.2:p.Asp1283Tyr
XM_011516315.3:c.3079G>T	XP_011514617.2:p.Asp1027Tyr
XM_017012323.2:c.3739G>T	XP_016867812.1:p.Asp1247Tyr
XR_001744809.2:n.4247G>T
NM_000443.4:c.3718G>T MANE Select	NP_000434.1:p.Asp1240Tyr
NM_018849.3:c.3739G>T	NP_061337.1:p.Asp1247Tyr
NM_018850.3:c.3577G>T	NP_061338.1:p.Asp1193Tyr