Canonical Allele Identifier: CA368057017

Gene: ABCB4

Linked Data

• MyVariant Identifiers: chr7:g.87031582G>C (hg19) ; chr7:g.87402266G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.87402266G>C , CM000669.2:g.87402266G>C	GRCh38
NC_000007.13:g.87031582G>C , CM000669.1:g.87031582G>C	GRCh37
NC_000007.12:g.86869518G>C	NCBI36
NG_007118.1:g.83167C>G
NG_007118.2:g.83167C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359206.8:c.3670C>G	ENSP00000352135.3:p.Arg1224Gly
ENST00000649586.2:c.3670C>G MANE Select	ENSP00000496956.2:p.Arg1224Gly
ENST00000265723.8:c.3691C>G	ENSP00000265723.4:p.Arg1231Gly
ENST00000358400.7:c.3529C>G	ENSP00000351172.3:p.Arg1177Gly
ENST00000359206.7:c.3670C>G	ENSP00000352135.3:p.Arg1224Gly
ENST00000440025.1:c.104C>G
ENST00000453593.5:c.3529C>G	ENSP00000392983.1:p.Arg1177Gly
ENST00000467983.1:n.282C>G
NM_000443.3:c.3670C>G	NP_000434.1:p.Arg1224Gly
NM_018849.2:c.3691C>G	NP_061337.1:p.Arg1231Gly
NM_018850.2:c.3529C>G	NP_061338.1:p.Arg1177Gly
XM_011516308.1:c.3691C>G	XP_011514610.1:p.Arg1231Gly
XM_011516309.1:c.3670C>G	XP_011514611.1:p.Arg1224Gly
XM_011516310.1:c.3586C>G	XP_011514612.1:p.Arg1196Gly
XM_011516311.1:c.3562C>G	XP_011514613.1:p.Arg1188Gly
XM_011516312.1:c.3550C>G	XP_011514614.1:p.Arg1184Gly
XM_011516313.1:c.3529C>G	XP_011514615.1:p.Arg1177Gly
XM_011516314.1:c.3712C>G	XP_011514616.1:p.Arg1238Gly
XM_011516315.1:c.3031C>G	XP_011514617.1:p.Arg1011Gly
XM_011516308.3:c.3961C>G	XP_011514610.3:p.Arg1321Gly
XM_011516309.3:c.3940C>G	XP_011514611.3:p.Arg1314Gly
XM_011516310.3:c.3856C>G	XP_011514612.3:p.Arg1286Gly
XM_011516311.3:c.3832C>G	XP_011514613.3:p.Arg1278Gly
XM_011516312.3:c.3820C>G	XP_011514614.3:p.Arg1274Gly
XM_011516313.3:c.3799C>G	XP_011514615.2:p.Arg1267Gly
XM_011516315.3:c.3031C>G	XP_011514617.2:p.Arg1011Gly
XM_017012323.2:c.3691C>G	XP_016867812.1:p.Arg1231Gly
XR_001744809.2:n.4199C>G
NM_000443.4:c.3670C>G MANE Select	NP_000434.1:p.Arg1224Gly
NM_018849.3:c.3691C>G	NP_061337.1:p.Arg1231Gly
NM_018850.3:c.3529C>G	NP_061338.1:p.Arg1177Gly