Canonical Allele Identifier: CA2683610039
Gene: ABCB1 HGNC NCBI

Linked Data

gnomAD v4: 7-87600793-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.87600793T>C , CM000669.2:g.87600793T>C GRCh38
NC_000007.13:g.87230109T>C , CM000669.1:g.87230109T>C GRCh37
NC_000007.12:g.87068045T>C NCBI36
NG_011513.1:g.117456A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000265724.8:c.-45A>G ENSP00000265724.3:n.-45A>G
ENST00000622132.5:c.-45A>G MANE Select ENSP00000478255.1:n.-45A>G
ENST00000265724.7:c.-45A>G ENSP00000265724.3:n.-45A>G
ENST00000416177.1:c.-45A>G ENSP00000399419.1:n.-45A>G
ENST00000543898.5:c.-45A>G ENSP00000444095.1:n.-45A>G
ENST00000622132.4:c.-45A>G ENSP00000478255.1:n.-45A>G
NM_000927.4:c.-45A>G NP_000918.2:n.-45A>G
NM_001348944.1:c.-45A>G NP_001335873.1:n.-45A>G
NM_001348945.1:c.166A>G NP_001335874.1:p.Lys56Glu
NM_001348946.1:c.-45A>G NP_001335875.1:n.-45A>G
NM_001348946.2:c.-45A>G MANE Select NP_001335875.1:n.-45A>G
NM_000927.5:c.-45A>G NP_000918.2:n.-45A>G
NM_001348944.2:c.-45A>G NP_001335873.1:n.-45A>G
NM_001348945.2:c.166A>G NP_001335874.1:p.Lys56Glu