Canonical Allele Identifier: CA368057031

Gene: ABCB4

Linked Data

• MyVariant Identifiers: chr7:g.87031585C>A (hg19) ; chr7:g.87402269C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.87402269C>A , CM000669.2:g.87402269C>A	GRCh38
NC_000007.13:g.87031585C>A , CM000669.1:g.87031585C>A	GRCh37
NC_000007.12:g.86869521C>A	NCBI36
NG_007118.1:g.83164G>T
NG_007118.2:g.83164G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359206.8:c.3667G>T	ENSP00000352135.3:p.Gly1223Cys
ENST00000649586.2:c.3667G>T MANE Select	ENSP00000496956.2:p.Gly1223Cys
ENST00000265723.8:c.3688G>T	ENSP00000265723.4:p.Gly1230Cys
ENST00000358400.7:c.3526G>T	ENSP00000351172.3:p.Gly1176Cys
ENST00000359206.7:c.3667G>T	ENSP00000352135.3:p.Gly1223Cys
ENST00000440025.1:c.101G>T
ENST00000453593.5:c.3526G>T	ENSP00000392983.1:p.Gly1176Cys
ENST00000467983.1:n.279G>T
NM_000443.3:c.3667G>T	NP_000434.1:p.Gly1223Cys
NM_018849.2:c.3688G>T	NP_061337.1:p.Gly1230Cys
NM_018850.2:c.3526G>T	NP_061338.1:p.Gly1176Cys
XM_011516308.1:c.3688G>T	XP_011514610.1:p.Gly1230Cys
XM_011516309.1:c.3667G>T	XP_011514611.1:p.Gly1223Cys
XM_011516310.1:c.3583G>T	XP_011514612.1:p.Gly1195Cys
XM_011516311.1:c.3559G>T	XP_011514613.1:p.Gly1187Cys
XM_011516312.1:c.3547G>T	XP_011514614.1:p.Gly1183Cys
XM_011516313.1:c.3526G>T	XP_011514615.1:p.Gly1176Cys
XM_011516314.1:c.3709G>T	XP_011514616.1:p.Gly1237Cys
XM_011516315.1:c.3028G>T	XP_011514617.1:p.Gly1010Cys
XM_011516308.3:c.3958G>T	XP_011514610.3:p.Gly1320Cys
XM_011516309.3:c.3937G>T	XP_011514611.3:p.Gly1313Cys
XM_011516310.3:c.3853G>T	XP_011514612.3:p.Gly1285Cys
XM_011516311.3:c.3829G>T	XP_011514613.3:p.Gly1277Cys
XM_011516312.3:c.3817G>T	XP_011514614.3:p.Gly1273Cys
XM_011516313.3:c.3796G>T	XP_011514615.2:p.Gly1266Cys
XM_011516315.3:c.3028G>T	XP_011514617.2:p.Gly1010Cys
XM_017012323.2:c.3688G>T	XP_016867812.1:p.Gly1230Cys
XR_001744809.2:n.4196G>T
NM_000443.4:c.3667G>T MANE Select	NP_000434.1:p.Gly1223Cys
NM_018849.3:c.3688G>T	NP_061337.1:p.Gly1230Cys
NM_018850.3:c.3526G>T	NP_061338.1:p.Gly1176Cys