Canonical Allele Identifier: CA368056718

Gene: ABCB4

Linked Data

• MyVariant Identifiers: chr7:g.87031493A>C (hg19) ; chr7:g.87402177A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.87402177A>C , CM000669.2:g.87402177A>C	GRCh38
NC_000007.13:g.87031493A>C , CM000669.1:g.87031493A>C	GRCh37
NC_000007.12:g.86869429A>C	NCBI36
NG_007118.1:g.83256T>G
NG_007118.2:g.83256T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359206.8:c.3759T>G	ENSP00000352135.3:p.His1253Gln
ENST00000649586.2:c.3759T>G MANE Select	ENSP00000496956.2:p.His1253Gln
ENST00000265723.8:c.3780T>G	ENSP00000265723.4:p.His1260Gln
ENST00000358400.7:c.3618T>G	ENSP00000351172.3:p.His1206Gln
ENST00000359206.7:c.3759T>G	ENSP00000352135.3:p.His1253Gln
ENST00000440025.1:c.193T>G
ENST00000453593.5:c.3618T>G	ENSP00000392983.1:p.His1206Gln
ENST00000467983.1:n.371T>G
NM_000443.3:c.3759T>G	NP_000434.1:p.His1253Gln
NM_018849.2:c.3780T>G	NP_061337.1:p.His1260Gln
NM_018850.2:c.3618T>G	NP_061338.1:p.His1206Gln
XM_011516308.1:c.3780T>G	XP_011514610.1:p.His1260Gln
XM_011516309.1:c.3759T>G	XP_011514611.1:p.His1253Gln
XM_011516310.1:c.3675T>G	XP_011514612.1:p.His1225Gln
XM_011516311.1:c.3651T>G	XP_011514613.1:p.His1217Gln
XM_011516312.1:c.3639T>G	XP_011514614.1:p.His1213Gln
XM_011516313.1:c.3618T>G	XP_011514615.1:p.His1206Gln
XM_011516314.1:c.3801T>G	XP_011514616.1:p.His1267Gln
XM_011516315.1:c.3120T>G	XP_011514617.1:p.His1040Gln
XM_011516308.3:c.4050T>G	XP_011514610.3:p.His1350Gln
XM_011516309.3:c.4029T>G	XP_011514611.3:p.His1343Gln
XM_011516310.3:c.3945T>G	XP_011514612.3:p.His1315Gln
XM_011516311.3:c.3921T>G	XP_011514613.3:p.His1307Gln
XM_011516312.3:c.3909T>G	XP_011514614.3:p.His1303Gln
XM_011516313.3:c.3888T>G	XP_011514615.2:p.His1296Gln
XM_011516315.3:c.3120T>G	XP_011514617.2:p.His1040Gln
XM_017012323.2:c.3780T>G	XP_016867812.1:p.His1260Gln
XR_001744809.2:n.4288T>G
NM_000443.4:c.3759T>G MANE Select	NP_000434.1:p.His1253Gln
NM_018849.3:c.3780T>G	NP_061337.1:p.His1260Gln
NM_018850.3:c.3618T>G	NP_061338.1:p.His1206Gln