Canonical Allele Identifier: CA368056715

Gene: ABCB4

Linked Data

• MyVariant Identifiers: chr7:g.87031492C>G (hg19) ; chr7:g.87402176C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.87402176C>G , CM000669.2:g.87402176C>G	GRCh38
NC_000007.13:g.87031492C>G , CM000669.1:g.87031492C>G	GRCh37
NC_000007.12:g.86869428C>G	NCBI36
NG_007118.1:g.83257G>C
NG_007118.2:g.83257G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359206.8:c.3760G>C	ENSP00000352135.3:p.Gly1254Arg
ENST00000649586.2:c.3760G>C MANE Select	ENSP00000496956.2:p.Gly1254Arg
ENST00000265723.8:c.3781G>C	ENSP00000265723.4:p.Gly1261Arg
ENST00000358400.7:c.3619G>C	ENSP00000351172.3:p.Gly1207Arg
ENST00000359206.7:c.3760G>C	ENSP00000352135.3:p.Gly1254Arg
ENST00000440025.1:c.194G>C
ENST00000453593.5:c.3619G>C	ENSP00000392983.1:p.Gly1207Arg
ENST00000467983.1:n.372G>C
NM_000443.3:c.3760G>C	NP_000434.1:p.Gly1254Arg
NM_018849.2:c.3781G>C	NP_061337.1:p.Gly1261Arg
NM_018850.2:c.3619G>C	NP_061338.1:p.Gly1207Arg
XM_011516308.1:c.3781G>C	XP_011514610.1:p.Gly1261Arg
XM_011516309.1:c.3760G>C	XP_011514611.1:p.Gly1254Arg
XM_011516310.1:c.3676G>C	XP_011514612.1:p.Gly1226Arg
XM_011516311.1:c.3652G>C	XP_011514613.1:p.Gly1218Arg
XM_011516312.1:c.3640G>C	XP_011514614.1:p.Gly1214Arg
XM_011516313.1:c.3619G>C	XP_011514615.1:p.Gly1207Arg
XM_011516314.1:c.3802G>C	XP_011514616.1:p.Gly1268Arg
XM_011516315.1:c.3121G>C	XP_011514617.1:p.Gly1041Arg
XM_011516308.3:c.4051G>C	XP_011514610.3:p.Gly1351Arg
XM_011516309.3:c.4030G>C	XP_011514611.3:p.Gly1344Arg
XM_011516310.3:c.3946G>C	XP_011514612.3:p.Gly1316Arg
XM_011516311.3:c.3922G>C	XP_011514613.3:p.Gly1308Arg
XM_011516312.3:c.3910G>C	XP_011514614.3:p.Gly1304Arg
XM_011516313.3:c.3889G>C	XP_011514615.2:p.Gly1297Arg
XM_011516315.3:c.3121G>C	XP_011514617.2:p.Gly1041Arg
XM_017012323.2:c.3781G>C	XP_016867812.1:p.Gly1261Arg
XR_001744809.2:n.4289G>C
NM_000443.4:c.3760G>C MANE Select	NP_000434.1:p.Gly1254Arg
NM_018849.3:c.3781G>C	NP_061337.1:p.Gly1261Arg
NM_018850.3:c.3619G>C	NP_061338.1:p.Gly1207Arg