Canonical Allele Identifier: CA368063046
Gene: ABCB1 HGNC NCBI

Linked Data

gnomAD v4: 7-87550505-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.87550505T>C , CM000669.2:g.87550505T>C GRCh38
NC_000007.13:g.87179821T>C , CM000669.1:g.87179821T>C GRCh37
NC_000007.12:g.87017757T>C NCBI36
NG_011513.1:g.167744A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000265724.8:c.1187A>G ENSP00000265724.3:p.Asn396Ser
ENST00000622132.5:c.1187A>G MANE Select ENSP00000478255.1:p.Asn396Ser
ENST00000265724.7:c.1187A>G ENSP00000265724.3:p.Asn396Ser
ENST00000543898.5:c.995A>G ENSP00000444095.1:p.Asn332Ser
ENST00000622132.4:c.1187A>G ENSP00000478255.1:p.Asn396Ser
NM_000927.4:c.1187A>G NP_000918.2:p.Asn396Ser
NM_001348944.1:c.1187A>G NP_001335873.1:p.Asn396Ser
NM_001348945.1:c.1397A>G NP_001335874.1:p.Asn466Ser
NM_001348946.1:c.1187A>G NP_001335875.1:p.Asn396Ser
NM_001348946.2:c.1187A>G MANE Select NP_001335875.1:p.Asn396Ser
NM_000927.5:c.1187A>G NP_000918.2:p.Asn396Ser
NM_001348944.2:c.1187A>G NP_001335873.1:p.Asn396Ser
NM_001348945.2:c.1397A>G NP_001335874.1:p.Asn466Ser