Canonical Allele Identifier: CA368056926

Gene: ABCB4

Linked Data

• MyVariant Identifiers: chr7:g.87031559G>C (hg19) ; chr7:g.87402243G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.87402243G>C , CM000669.2:g.87402243G>C	GRCh38
NC_000007.13:g.87031559G>C , CM000669.1:g.87031559G>C	GRCh37
NC_000007.12:g.86869495G>C	NCBI36
NG_007118.1:g.83190C>G
NG_007118.2:g.83190C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359206.8:c.3693C>G	ENSP00000352135.3:p.His1231Gln
ENST00000649586.2:c.3693C>G MANE Select	ENSP00000496956.2:p.His1231Gln
ENST00000265723.8:c.3714C>G	ENSP00000265723.4:p.His1238Gln
ENST00000358400.7:c.3552C>G	ENSP00000351172.3:p.His1184Gln
ENST00000359206.7:c.3693C>G	ENSP00000352135.3:p.His1231Gln
ENST00000440025.1:c.127C>G
ENST00000453593.5:c.3552C>G	ENSP00000392983.1:p.His1184Gln
ENST00000467983.1:n.305C>G
NM_000443.3:c.3693C>G	NP_000434.1:p.His1231Gln
NM_018849.2:c.3714C>G	NP_061337.1:p.His1238Gln
NM_018850.2:c.3552C>G	NP_061338.1:p.His1184Gln
XM_011516308.1:c.3714C>G	XP_011514610.1:p.His1238Gln
XM_011516309.1:c.3693C>G	XP_011514611.1:p.His1231Gln
XM_011516310.1:c.3609C>G	XP_011514612.1:p.His1203Gln
XM_011516311.1:c.3585C>G	XP_011514613.1:p.His1195Gln
XM_011516312.1:c.3573C>G	XP_011514614.1:p.His1191Gln
XM_011516313.1:c.3552C>G	XP_011514615.1:p.His1184Gln
XM_011516314.1:c.3735C>G	XP_011514616.1:p.His1245Gln
XM_011516315.1:c.3054C>G	XP_011514617.1:p.His1018Gln
XM_011516308.3:c.3984C>G	XP_011514610.3:p.His1328Gln
XM_011516309.3:c.3963C>G	XP_011514611.3:p.His1321Gln
XM_011516310.3:c.3879C>G	XP_011514612.3:p.His1293Gln
XM_011516311.3:c.3855C>G	XP_011514613.3:p.His1285Gln
XM_011516312.3:c.3843C>G	XP_011514614.3:p.His1281Gln
XM_011516313.3:c.3822C>G	XP_011514615.2:p.His1274Gln
XM_011516315.3:c.3054C>G	XP_011514617.2:p.His1018Gln
XM_017012323.2:c.3714C>G	XP_016867812.1:p.His1238Gln
XR_001744809.2:n.4222C>G
NM_000443.4:c.3693C>G MANE Select	NP_000434.1:p.His1231Gln
NM_018849.3:c.3714C>G	NP_061337.1:p.His1238Gln
NM_018850.3:c.3552C>G	NP_061338.1:p.His1184Gln