Canonical Allele Identifier: CA2683604475
Gene: ABCB1 HGNC NCBI

Linked Data

gnomAD v4: 7-87503893-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.87503893C>A , CM000669.2:g.87503893C>A GRCh38
NC_000007.13:g.87133209C>A , CM000669.1:g.87133209C>A GRCh37
NC_000007.12:g.86971145C>A NCBI36
NG_011513.1:g.214356G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000265724.8:c.*350G>T ENSP00000265724.3:n.*350G>T
ENST00000622132.5:c.*350G>T MANE Select ENSP00000478255.1:n.*350G>T
ENST00000265724.7:c.*350G>T ENSP00000265724.3:n.*350G>T
ENST00000488737.6:n.1835G>T
ENST00000543898.5:c.*350G>T ENSP00000444095.1:n.*350G>T
ENST00000622132.4:c.*350G>T ENSP00000478255.1:n.*350G>T
NM_000927.4:c.*350G>T NP_000918.2:n.*350G>T
NM_001348944.1:c.*350G>T NP_001335873.1:n.*350G>T
NM_001348945.1:c.*350G>T NP_001335874.1:n.*350G>T
NM_001348946.1:c.*350G>T NP_001335875.1:n.*350G>T
NM_001348946.2:c.*350G>T MANE Select NP_001335875.1:n.*350G>T
NM_000927.5:c.*350G>T NP_000918.2:n.*350G>T
NM_001348944.2:c.*350G>T NP_001335873.1:n.*350G>T
NM_001348945.2:c.*350G>T NP_001335874.1:n.*350G>T