Canonical Allele Identifier: CA368056826

Gene: ABCB4

Linked Data

• MyVariant Identifiers: chr7:g.87031536G>C (hg19) ; chr7:g.87402220G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.87402220G>C , CM000669.2:g.87402220G>C	GRCh38
NC_000007.13:g.87031536G>C , CM000669.1:g.87031536G>C	GRCh37
NC_000007.12:g.86869472G>C	NCBI36
NG_007118.1:g.83213C>G
NG_007118.2:g.83213C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359206.8:c.3716C>G	ENSP00000352135.3:p.Ala1239Gly
ENST00000649586.2:c.3716C>G MANE Select	ENSP00000496956.2:p.Ala1239Gly
ENST00000265723.8:c.3737C>G	ENSP00000265723.4:p.Ala1246Gly
ENST00000358400.7:c.3575C>G	ENSP00000351172.3:p.Ala1192Gly
ENST00000359206.7:c.3716C>G	ENSP00000352135.3:p.Ala1239Gly
ENST00000440025.1:c.150C>G
ENST00000453593.5:c.3575C>G	ENSP00000392983.1:p.Ala1192Gly
ENST00000467983.1:n.328C>G
NM_000443.3:c.3716C>G	NP_000434.1:p.Ala1239Gly
NM_018849.2:c.3737C>G	NP_061337.1:p.Ala1246Gly
NM_018850.2:c.3575C>G	NP_061338.1:p.Ala1192Gly
XM_011516308.1:c.3737C>G	XP_011514610.1:p.Ala1246Gly
XM_011516309.1:c.3716C>G	XP_011514611.1:p.Ala1239Gly
XM_011516310.1:c.3632C>G	XP_011514612.1:p.Ala1211Gly
XM_011516311.1:c.3608C>G	XP_011514613.1:p.Ala1203Gly
XM_011516312.1:c.3596C>G	XP_011514614.1:p.Ala1199Gly
XM_011516313.1:c.3575C>G	XP_011514615.1:p.Ala1192Gly
XM_011516314.1:c.3758C>G	XP_011514616.1:p.Ala1253Gly
XM_011516315.1:c.3077C>G	XP_011514617.1:p.Ala1026Gly
XM_011516308.3:c.4007C>G	XP_011514610.3:p.Ala1336Gly
XM_011516309.3:c.3986C>G	XP_011514611.3:p.Ala1329Gly
XM_011516310.3:c.3902C>G	XP_011514612.3:p.Ala1301Gly
XM_011516311.3:c.3878C>G	XP_011514613.3:p.Ala1293Gly
XM_011516312.3:c.3866C>G	XP_011514614.3:p.Ala1289Gly
XM_011516313.3:c.3845C>G	XP_011514615.2:p.Ala1282Gly
XM_011516315.3:c.3077C>G	XP_011514617.2:p.Ala1026Gly
XM_017012323.2:c.3737C>G	XP_016867812.1:p.Ala1246Gly
XR_001744809.2:n.4245C>G
NM_000443.4:c.3716C>G MANE Select	NP_000434.1:p.Ala1239Gly
NM_018849.3:c.3737C>G	NP_061337.1:p.Ala1246Gly
NM_018850.3:c.3575C>G	NP_061338.1:p.Ala1192Gly