Canonical Allele Identifier: CA368062737
Gene: ABCB1 HGNC NCBI

Linked Data

gnomAD v4: 7-87550233-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.87550233C>T , CM000669.2:g.87550233C>T GRCh38
NC_000007.13:g.87179549C>T , CM000669.1:g.87179549C>T GRCh37
NC_000007.12:g.87017485C>T NCBI36
NG_011513.1:g.168016G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000265724.8:c.1288G>A ENSP00000265724.3:p.Gly430Ser
ENST00000622132.5:c.1288G>A MANE Select ENSP00000478255.1:p.Gly430Ser
ENST00000265724.7:c.1288G>A ENSP00000265724.3:p.Gly430Ser
ENST00000543898.5:c.1096G>A ENSP00000444095.1:p.Gly366Ser
ENST00000622132.4:c.1288G>A ENSP00000478255.1:p.Gly430Ser
NM_000927.4:c.1288G>A NP_000918.2:p.Gly430Ser
NM_001348944.1:c.1288G>A NP_001335873.1:p.Gly430Ser
NM_001348945.1:c.1498G>A NP_001335874.1:p.Gly500Ser
NM_001348946.1:c.1288G>A NP_001335875.1:p.Gly430Ser
NM_001348946.2:c.1288G>A MANE Select NP_001335875.1:p.Gly430Ser
NM_000927.5:c.1288G>A NP_000918.2:p.Gly430Ser
NM_001348944.2:c.1288G>A NP_001335873.1:p.Gly430Ser
NM_001348945.2:c.1498G>A NP_001335874.1:p.Gly500Ser