Canonical Allele Identifier: CA2683605990

Gene: ABCB1

Linked Data

• gnomAD v4: 7-87520629-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.87520629G>A , CM000669.2:g.87520629G>A	GRCh38
NC_000007.13:g.87149945G>A , CM000669.1:g.87149945G>A	GRCh37
NC_000007.12:g.86987881G>A	NCBI36
NG_011513.1:g.197620C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265724.8:c.2786+147C>T	ENSP00000265724.3:n.2786+147C>T
ENST00000622132.5:c.2786+147C>T MANE Select	ENSP00000478255.1:n.2786+147C>T
ENST00000265724.7:c.2786+147C>T	ENSP00000265724.3:n.2786+147C>T
ENST00000483831.1:n.344+147C>T
ENST00000488737.6:n.428+147C>T
ENST00000496821.5:n.414+147C>T
ENST00000543898.5:c.2594+147C>T	ENSP00000444095.1:n.2594+147C>T
ENST00000622132.4:c.2786+147C>T	ENSP00000478255.1:n.2786+147C>T
NM_000927.4:c.2786+147C>T	NP_000918.2:n.2786+147C>T
NM_001348944.1:c.2786+147C>T	NP_001335873.1:n.2786+147C>T
NM_001348945.1:c.2996+147C>T	NP_001335874.1:n.2996+147C>T
NM_001348946.1:c.2786+147C>T	NP_001335875.1:n.2786+147C>T
NM_001348946.2:c.2786+147C>T MANE Select	NP_001335875.1:n.2786+147C>T
NM_000927.5:c.2786+147C>T	NP_000918.2:n.2786+147C>T
NM_001348944.2:c.2786+147C>T	NP_001335873.1:n.2786+147C>T
NM_001348945.2:c.2996+147C>T	NP_001335874.1:n.2996+147C>T