Canonical Allele Identifier: CA368056725

Gene: ABCB4

Linked Data

• MyVariant Identifiers: chr7:g.87031495G>C (hg19) ; chr7:g.87402179G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.87402179G>C , CM000669.2:g.87402179G>C	GRCh38
NC_000007.13:g.87031495G>C , CM000669.1:g.87031495G>C	GRCh37
NC_000007.12:g.86869431G>C	NCBI36
NG_007118.1:g.83254C>G
NG_007118.2:g.83254C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359206.8:c.3757C>G	ENSP00000352135.3:p.His1253Asp
ENST00000649586.2:c.3757C>G MANE Select	ENSP00000496956.2:p.His1253Asp
ENST00000265723.8:c.3778C>G	ENSP00000265723.4:p.His1260Asp
ENST00000358400.7:c.3616C>G	ENSP00000351172.3:p.His1206Asp
ENST00000359206.7:c.3757C>G	ENSP00000352135.3:p.His1253Asp
ENST00000440025.1:c.191C>G
ENST00000453593.5:c.3616C>G	ENSP00000392983.1:p.His1206Asp
ENST00000467983.1:n.369C>G
NM_000443.3:c.3757C>G	NP_000434.1:p.His1253Asp
NM_018849.2:c.3778C>G	NP_061337.1:p.His1260Asp
NM_018850.2:c.3616C>G	NP_061338.1:p.His1206Asp
XM_011516308.1:c.3778C>G	XP_011514610.1:p.His1260Asp
XM_011516309.1:c.3757C>G	XP_011514611.1:p.His1253Asp
XM_011516310.1:c.3673C>G	XP_011514612.1:p.His1225Asp
XM_011516311.1:c.3649C>G	XP_011514613.1:p.His1217Asp
XM_011516312.1:c.3637C>G	XP_011514614.1:p.His1213Asp
XM_011516313.1:c.3616C>G	XP_011514615.1:p.His1206Asp
XM_011516314.1:c.3799C>G	XP_011514616.1:p.His1267Asp
XM_011516315.1:c.3118C>G	XP_011514617.1:p.His1040Asp
XM_011516308.3:c.4048C>G	XP_011514610.3:p.His1350Asp
XM_011516309.3:c.4027C>G	XP_011514611.3:p.His1343Asp
XM_011516310.3:c.3943C>G	XP_011514612.3:p.His1315Asp
XM_011516311.3:c.3919C>G	XP_011514613.3:p.His1307Asp
XM_011516312.3:c.3907C>G	XP_011514614.3:p.His1303Asp
XM_011516313.3:c.3886C>G	XP_011514615.2:p.His1296Asp
XM_011516315.3:c.3118C>G	XP_011514617.2:p.His1040Asp
XM_017012323.2:c.3778C>G	XP_016867812.1:p.His1260Asp
XR_001744809.2:n.4286C>G
NM_000443.4:c.3757C>G MANE Select	NP_000434.1:p.His1253Asp
NM_018849.3:c.3778C>G	NP_061337.1:p.His1260Asp
NM_018850.3:c.3616C>G	NP_061338.1:p.His1206Asp