Canonical Allele Identifier: CA368063027
Gene: ABCB1 HGNC NCBI

Linked Data

gnomAD v4: 7-87550500-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.87550500G>T , CM000669.2:g.87550500G>T GRCh38
NC_000007.13:g.87179816G>T , CM000669.1:g.87179816G>T GRCh37
NC_000007.12:g.87017752G>T NCBI36
NG_011513.1:g.167749C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000265724.8:c.1192C>A ENSP00000265724.3:p.His398Asn
ENST00000622132.5:c.1192C>A MANE Select ENSP00000478255.1:p.His398Asn
ENST00000265724.7:c.1192C>A ENSP00000265724.3:p.His398Asn
ENST00000543898.5:c.1000C>A ENSP00000444095.1:p.His334Asn
ENST00000622132.4:c.1192C>A ENSP00000478255.1:p.His398Asn
NM_000927.4:c.1192C>A NP_000918.2:p.His398Asn
NM_001348944.1:c.1192C>A NP_001335873.1:p.His398Asn
NM_001348945.1:c.1402C>A NP_001335874.1:p.His468Asn
NM_001348946.1:c.1192C>A NP_001335875.1:p.His398Asn
NM_001348946.2:c.1192C>A MANE Select NP_001335875.1:p.His398Asn
NM_000927.5:c.1192C>A NP_000918.2:p.His398Asn
NM_001348944.2:c.1192C>A NP_001335873.1:p.His398Asn
NM_001348945.2:c.1402C>A NP_001335874.1:p.His468Asn