Canonical Allele Identifier: CA368056722

Gene: ABCB4

Linked Data

• MyVariant Identifiers: chr7:g.87031494T>A (hg19) ; chr7:g.87402178T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.87402178T>A , CM000669.2:g.87402178T>A	GRCh38
NC_000007.13:g.87031494T>A , CM000669.1:g.87031494T>A	GRCh37
NC_000007.12:g.86869430T>A	NCBI36
NG_007118.1:g.83255A>T
NG_007118.2:g.83255A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359206.8:c.3758A>T	ENSP00000352135.3:p.His1253Leu
ENST00000649586.2:c.3758A>T MANE Select	ENSP00000496956.2:p.His1253Leu
ENST00000265723.8:c.3779A>T	ENSP00000265723.4:p.His1260Leu
ENST00000358400.7:c.3617A>T	ENSP00000351172.3:p.His1206Leu
ENST00000359206.7:c.3758A>T	ENSP00000352135.3:p.His1253Leu
ENST00000440025.1:c.192A>T
ENST00000453593.5:c.3617A>T	ENSP00000392983.1:p.His1206Leu
ENST00000467983.1:n.370A>T
NM_000443.3:c.3758A>T	NP_000434.1:p.His1253Leu
NM_018849.2:c.3779A>T	NP_061337.1:p.His1260Leu
NM_018850.2:c.3617A>T	NP_061338.1:p.His1206Leu
XM_011516308.1:c.3779A>T	XP_011514610.1:p.His1260Leu
XM_011516309.1:c.3758A>T	XP_011514611.1:p.His1253Leu
XM_011516310.1:c.3674A>T	XP_011514612.1:p.His1225Leu
XM_011516311.1:c.3650A>T	XP_011514613.1:p.His1217Leu
XM_011516312.1:c.3638A>T	XP_011514614.1:p.His1213Leu
XM_011516313.1:c.3617A>T	XP_011514615.1:p.His1206Leu
XM_011516314.1:c.3800A>T	XP_011514616.1:p.His1267Leu
XM_011516315.1:c.3119A>T	XP_011514617.1:p.His1040Leu
XM_011516308.3:c.4049A>T	XP_011514610.3:p.His1350Leu
XM_011516309.3:c.4028A>T	XP_011514611.3:p.His1343Leu
XM_011516310.3:c.3944A>T	XP_011514612.3:p.His1315Leu
XM_011516311.3:c.3920A>T	XP_011514613.3:p.His1307Leu
XM_011516312.3:c.3908A>T	XP_011514614.3:p.His1303Leu
XM_011516313.3:c.3887A>T	XP_011514615.2:p.His1296Leu
XM_011516315.3:c.3119A>T	XP_011514617.2:p.His1040Leu
XM_017012323.2:c.3779A>T	XP_016867812.1:p.His1260Leu
XR_001744809.2:n.4287A>T
NM_000443.4:c.3758A>T MANE Select	NP_000434.1:p.His1253Leu
NM_018849.3:c.3779A>T	NP_061337.1:p.His1260Leu
NM_018850.3:c.3617A>T	NP_061338.1:p.His1206Leu