Canonical Allele Identifier: CA368057023

Gene: ABCB4

Linked Data

• MyVariant Identifiers: chr7:g.87031584C>G (hg19) ; chr7:g.87402268C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.87402268C>G , CM000669.2:g.87402268C>G	GRCh38
NC_000007.13:g.87031584C>G , CM000669.1:g.87031584C>G	GRCh37
NC_000007.12:g.86869520C>G	NCBI36
NG_007118.1:g.83165G>C
NG_007118.2:g.83165G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359206.8:c.3668G>C	ENSP00000352135.3:p.Gly1223Ala
ENST00000649586.2:c.3668G>C MANE Select	ENSP00000496956.2:p.Gly1223Ala
ENST00000265723.8:c.3689G>C	ENSP00000265723.4:p.Gly1230Ala
ENST00000358400.7:c.3527G>C	ENSP00000351172.3:p.Gly1176Ala
ENST00000359206.7:c.3668G>C	ENSP00000352135.3:p.Gly1223Ala
ENST00000440025.1:c.102G>C
ENST00000453593.5:c.3527G>C	ENSP00000392983.1:p.Gly1176Ala
ENST00000467983.1:n.280G>C
NM_000443.3:c.3668G>C	NP_000434.1:p.Gly1223Ala
NM_018849.2:c.3689G>C	NP_061337.1:p.Gly1230Ala
NM_018850.2:c.3527G>C	NP_061338.1:p.Gly1176Ala
XM_011516308.1:c.3689G>C	XP_011514610.1:p.Gly1230Ala
XM_011516309.1:c.3668G>C	XP_011514611.1:p.Gly1223Ala
XM_011516310.1:c.3584G>C	XP_011514612.1:p.Gly1195Ala
XM_011516311.1:c.3560G>C	XP_011514613.1:p.Gly1187Ala
XM_011516312.1:c.3548G>C	XP_011514614.1:p.Gly1183Ala
XM_011516313.1:c.3527G>C	XP_011514615.1:p.Gly1176Ala
XM_011516314.1:c.3710G>C	XP_011514616.1:p.Gly1237Ala
XM_011516315.1:c.3029G>C	XP_011514617.1:p.Gly1010Ala
XM_011516308.3:c.3959G>C	XP_011514610.3:p.Gly1320Ala
XM_011516309.3:c.3938G>C	XP_011514611.3:p.Gly1313Ala
XM_011516310.3:c.3854G>C	XP_011514612.3:p.Gly1285Ala
XM_011516311.3:c.3830G>C	XP_011514613.3:p.Gly1277Ala
XM_011516312.3:c.3818G>C	XP_011514614.3:p.Gly1273Ala
XM_011516313.3:c.3797G>C	XP_011514615.2:p.Gly1266Ala
XM_011516315.3:c.3029G>C	XP_011514617.2:p.Gly1010Ala
XM_017012323.2:c.3689G>C	XP_016867812.1:p.Gly1230Ala
XR_001744809.2:n.4197G>C
NM_000443.4:c.3668G>C MANE Select	NP_000434.1:p.Gly1223Ala
NM_018849.3:c.3689G>C	NP_061337.1:p.Gly1230Ala
NM_018850.3:c.3527G>C	NP_061338.1:p.Gly1176Ala