Canonical Allele Identifier: CA2683610163
Gene: ABCB1 HGNC NCBI

Linked Data

gnomAD v4: 7-87601006-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.87601006A>G , CM000669.2:g.87601006A>G GRCh38
NC_000007.13:g.87230322A>G , CM000669.1:g.87230322A>G GRCh37
NC_000007.12:g.87068258A>G NCBI36
NG_011513.1:g.117243T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000265724.8:c.-258T>C ENSP00000265724.3:n.-258T>C
ENST00000265724.7:c.-258T>C ENSP00000265724.3:n.-258T>C
ENST00000416177.1:c.-111T>C ENSP00000399419.1:n.-111T>C
ENST00000476862.1:n.389T>C
ENST00000543898.5:c.-258T>C ENSP00000444095.1:n.-258T>C
ENST00000622132.4:c.-258T>C ENSP00000478255.1:n.-258T>C
NM_000927.4:c.-258T>C NP_000918.2:n.-258T>C
NM_001348944.1:c.-111T>C NP_001335873.1:n.-111T>C
NM_001348945.1:c.100T>C NP_001335874.1:p.Phe34Leu
NM_000927.5:c.-258T>C NP_000918.2:n.-258T>C
NM_001348944.2:c.-111T>C NP_001335873.1:n.-111T>C
NM_001348945.2:c.100T>C NP_001335874.1:p.Phe34Leu