Canonical Allele Identifier: CA368057242
Gene: ABCB1 HGNC NCBI

Linked Data

gnomAD v4: 7-87541463-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.87541463A>C , CM000669.2:g.87541463A>C GRCh38
NC_000007.13:g.87170779A>C , CM000669.1:g.87170779A>C GRCh37
NC_000007.12:g.87008715A>C NCBI36
NG_011513.1:g.176786T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000265724.8:c.2213T>G ENSP00000265724.3:p.Val738Gly
ENST00000622132.5:c.2213T>G MANE Select ENSP00000478255.1:p.Val738Gly
ENST00000265724.7:c.2213T>G ENSP00000265724.3:p.Val738Gly
ENST00000543898.5:c.2021T>G ENSP00000444095.1:p.Val674Gly
ENST00000622132.4:c.2213T>G ENSP00000478255.1:p.Val738Gly
NM_000927.4:c.2213T>G NP_000918.2:p.Val738Gly
NM_001348944.1:c.2213T>G NP_001335873.1:p.Val738Gly
NM_001348945.1:c.2423T>G NP_001335874.1:p.Val808Gly
NM_001348946.1:c.2213T>G NP_001335875.1:p.Val738Gly
NM_001348946.2:c.2213T>G MANE Select NP_001335875.1:p.Val738Gly
NM_000927.5:c.2213T>G NP_000918.2:p.Val738Gly
NM_001348944.2:c.2213T>G NP_001335873.1:p.Val738Gly
NM_001348945.2:c.2423T>G NP_001335874.1:p.Val808Gly