Canonical Allele Identifier: CA368063220
Gene: ABCB1 HGNC NCBI

Linked Data

gnomAD v4: 7-87550544-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.87550544T>C , CM000669.2:g.87550544T>C GRCh38
NC_000007.13:g.87179860T>C , CM000669.1:g.87179860T>C GRCh37
NC_000007.12:g.87017796T>C NCBI36
NG_011513.1:g.167705A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000265724.8:c.1148A>G ENSP00000265724.3:p.His383Arg
ENST00000622132.5:c.1148A>G MANE Select ENSP00000478255.1:p.His383Arg
ENST00000265724.7:c.1148A>G ENSP00000265724.3:p.His383Arg
ENST00000543898.5:c.956A>G ENSP00000444095.1:p.His319Arg
ENST00000622132.4:c.1148A>G ENSP00000478255.1:p.His383Arg
NM_000927.4:c.1148A>G NP_000918.2:p.His383Arg
NM_001348944.1:c.1148A>G NP_001335873.1:p.His383Arg
NM_001348945.1:c.1358A>G NP_001335874.1:p.His453Arg
NM_001348946.1:c.1148A>G NP_001335875.1:p.His383Arg
NM_001348946.2:c.1148A>G MANE Select NP_001335875.1:p.His383Arg
NM_000927.5:c.1148A>G NP_000918.2:p.His383Arg
NM_001348944.2:c.1148A>G NP_001335873.1:p.His383Arg
NM_001348945.2:c.1358A>G NP_001335874.1:p.His453Arg