Canonical Allele Identifier: CA368054219
Gene: ABCB1 HGNC NCBI

Linked Data

gnomAD v4: 7-87531299-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.87531299C>A , CM000669.2:g.87531299C>A GRCh38
NC_000007.13:g.87160615C>A , CM000669.1:g.87160615C>A GRCh37
NC_000007.12:g.86998551C>A NCBI36
NG_011513.1:g.186950G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000265724.8:c.2680G>T ENSP00000265724.3:p.Gly894Trp
ENST00000622132.5:c.2680G>T MANE Select ENSP00000478255.1:p.Gly894Trp
ENST00000265724.7:c.2680G>T ENSP00000265724.3:p.Gly894Trp
ENST00000488737.6:n.322G>T
ENST00000496821.5:n.308G>T
ENST00000543898.5:c.2488G>T ENSP00000444095.1:p.Gly830Trp
ENST00000622132.4:c.2680G>T ENSP00000478255.1:p.Gly894Trp
NM_000927.4:c.2680G>T NP_000918.2:p.Gly894Trp
NM_001348944.1:c.2680G>T NP_001335873.1:p.Gly894Trp
NM_001348945.1:c.2890G>T NP_001335874.1:p.Gly964Trp
NM_001348946.1:c.2680G>T NP_001335875.1:p.Gly894Trp
NM_001348946.2:c.2680G>T MANE Select NP_001335875.1:p.Gly894Trp
NM_000927.5:c.2680G>T NP_000918.2:p.Gly894Trp
NM_001348944.2:c.2680G>T NP_001335873.1:p.Gly894Trp
NM_001348945.2:c.2890G>T NP_001335874.1:p.Gly964Trp