Canonical Allele Identifier: CA368062342
Gene: ABCB1 HGNC NCBI

Linked Data

gnomAD v4: 7-87549996-A-T

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.87549996A>T , CM000669.2:g.87549996A>T GRCh38
NC_000007.13:g.87179312A>T , CM000669.1:g.87179312A>T GRCh37
NC_000007.12:g.87017248A>T NCBI36
NG_011513.1:g.168253T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000265724.8:c.1409T>A ENSP00000265724.3:p.Ile470Asn
ENST00000622132.5:c.1409T>A MANE Select ENSP00000478255.1:p.Ile470Asn
ENST00000265724.7:c.1409T>A ENSP00000265724.3:p.Ile470Asn
ENST00000482527.1:n.163T>A
ENST00000543898.5:c.1217T>A ENSP00000444095.1:p.Ile406Asn
ENST00000622132.4:c.1409T>A ENSP00000478255.1:p.Ile470Asn
NM_000927.4:c.1409T>A NP_000918.2:p.Ile470Asn
NM_001348944.1:c.1409T>A NP_001335873.1:p.Ile470Asn
NM_001348945.1:c.1619T>A NP_001335874.1:p.Ile540Asn
NM_001348946.1:c.1409T>A NP_001335875.1:p.Ile470Asn
NM_001348946.2:c.1409T>A MANE Select NP_001335875.1:p.Ile470Asn
NM_000927.5:c.1409T>A NP_000918.2:p.Ile470Asn
NM_001348944.2:c.1409T>A NP_001335873.1:p.Ile470Asn
NM_001348945.2:c.1619T>A NP_001335874.1:p.Ile540Asn