Canonical Allele Identifier: CA915945155
Gene: ABCB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 829324
ClinVar RCV Id: RCV001029245
dbSNP Id: rs763629745
gnomAD v4: 7-87600216-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.87600216C>G , CM000669.2:g.87600216C>G GRCh38
NC_000007.13:g.87229532C>G , CM000669.1:g.87229532C>G GRCh37
NC_000007.12:g.87067468C>G NCBI36
NG_011513.1:g.118033G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000265724.8:c.-6-26G>C ENSP00000265724.3:n.-6-26G>C
ENST00000622132.5:c.-6-26G>C MANE Select ENSP00000478255.1:n.-6-26G>C
ENST00000265724.7:c.-6-26G>C ENSP00000265724.3:n.-6-26G>C
ENST00000416177.1:c.-6-26G>C ENSP00000399419.1:n.-6-26G>C
ENST00000543898.5:c.-6-26G>C ENSP00000444095.1:n.-6-26G>C
ENST00000622132.4:c.-6-26G>C ENSP00000478255.1:n.-6-26G>C
NM_000927.4:c.-6-26G>C NP_000918.2:n.-6-26G>C
NM_001348944.1:c.-6-26G>C NP_001335873.1:n.-6-26G>C
NM_001348945.1:c.205-26G>C NP_001335874.1:n.205-26G>C
NM_001348946.1:c.-6-26G>C NP_001335875.1:n.-6-26G>C
NM_001348946.2:c.-6-26G>C MANE Select NP_001335875.1:n.-6-26G>C
NM_000927.5:c.-6-26G>C NP_000918.2:n.-6-26G>C
NM_001348944.2:c.-6-26G>C NP_001335873.1:n.-6-26G>C
NM_001348945.2:c.205-26G>C NP_001335874.1:n.205-26G>C