Canonical Allele Identifier: CA2683605260
Gene: ABCB1 HGNC NCBI

Linked Data

gnomAD v4: 7-87516390-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.87516390C>G , CM000669.2:g.87516390C>G GRCh38
NC_000007.13:g.87145706C>G , CM000669.1:g.87145706C>G GRCh37
NC_000007.12:g.86983642C>G NCBI36
NG_011513.1:g.201859G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000265724.8:c.3084+119G>C ENSP00000265724.3:n.3084+119G>C
ENST00000622132.5:c.3084+119G>C MANE Select ENSP00000478255.1:n.3084+119G>C
ENST00000265724.7:c.3084+119G>C ENSP00000265724.3:n.3084+119G>C
ENST00000475929.5:n.240+119G>C
ENST00000488737.6:n.726+119G>C
ENST00000496821.5:n.712+119G>C
ENST00000543898.5:c.2892+119G>C ENSP00000444095.1:n.2892+119G>C
ENST00000622132.4:c.3084+119G>C ENSP00000478255.1:n.3084+119G>C
NM_000927.4:c.3084+119G>C NP_000918.2:n.3084+119G>C
NM_001348944.1:c.3084+119G>C NP_001335873.1:n.3084+119G>C
NM_001348945.1:c.3294+119G>C NP_001335874.1:n.3294+119G>C
NM_001348946.1:c.3084+119G>C NP_001335875.1:n.3084+119G>C
NM_001348946.2:c.3084+119G>C MANE Select NP_001335875.1:n.3084+119G>C
NM_000927.5:c.3084+119G>C NP_000918.2:n.3084+119G>C
NM_001348944.2:c.3084+119G>C NP_001335873.1:n.3084+119G>C
NM_001348945.2:c.3294+119G>C NP_001335874.1:n.3294+119G>C