Canonical Allele Identifier: CA368055840
Gene: ABCB1 HGNC NCBI

Linked Data

gnomAD v4: 7-87536490-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.87536490T>C , CM000669.2:g.87536490T>C GRCh38
NC_000007.13:g.87165806T>C , CM000669.1:g.87165806T>C GRCh37
NC_000007.12:g.87003742T>C NCBI36
NG_011513.1:g.181759A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000265724.8:c.2449A>G ENSP00000265724.3:p.Arg817Gly
ENST00000622132.5:c.2449A>G MANE Select ENSP00000478255.1:p.Arg817Gly
ENST00000265724.7:c.2449A>G ENSP00000265724.3:p.Arg817Gly
ENST00000496821.5:n.77A>G
ENST00000543898.5:c.2257A>G ENSP00000444095.1:p.Arg753Gly
ENST00000622132.4:c.2449A>G ENSP00000478255.1:p.Arg817Gly
NM_000927.4:c.2449A>G NP_000918.2:p.Arg817Gly
NM_001348944.1:c.2449A>G NP_001335873.1:p.Arg817Gly
NM_001348945.1:c.2659A>G NP_001335874.1:p.Arg887Gly
NM_001348946.1:c.2449A>G NP_001335875.1:p.Arg817Gly
NM_001348946.2:c.2449A>G MANE Select NP_001335875.1:p.Arg817Gly
NM_000927.5:c.2449A>G NP_000918.2:p.Arg817Gly
NM_001348944.2:c.2449A>G NP_001335873.1:p.Arg817Gly
NM_001348945.2:c.2659A>G NP_001335874.1:p.Arg887Gly