Canonical Allele Identifier: CA368062498
Gene: ABCB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 828680
ClinVar RCV Id: RCV001028590
dbSNP Id: rs139611979

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.87550179C>A , CM000669.2:g.87550179C>A GRCh38
NC_000007.13:g.87179495C>A , CM000669.1:g.87179495C>A GRCh37
NC_000007.12:g.87017431C>A NCBI36
NG_011513.1:g.168070G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000265724.8:c.1342G>T ENSP00000265724.3:p.Glu448Ter
ENST00000622132.5:c.1342G>T MANE Select ENSP00000478255.1:p.Glu448Ter
ENST00000265724.7:c.1342G>T ENSP00000265724.3:p.Glu448Ter
ENST00000543898.5:c.1150G>T ENSP00000444095.1:p.Glu384Ter
ENST00000622132.4:c.1342G>T ENSP00000478255.1:p.Glu448Ter
NM_000927.4:c.1342G>T NP_000918.2:p.Glu448Ter
NM_001348944.1:c.1342G>T NP_001335873.1:p.Glu448Ter
NM_001348945.1:c.1552G>T NP_001335874.1:p.Glu518Ter
NM_001348946.1:c.1342G>T NP_001335875.1:p.Glu448Ter
NM_001348946.2:c.1342G>T MANE Select NP_001335875.1:p.Glu448Ter
NM_000927.5:c.1342G>T NP_000918.2:p.Glu448Ter
NM_001348944.2:c.1342G>T NP_001335873.1:p.Glu448Ter
NM_001348945.2:c.1552G>T NP_001335874.1:p.Glu518Ter