Canonical Allele Identifier: CA2683604488

Gene: ABCB1

Linked Data

• gnomAD v4: 7-87503914-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.87503914C>A , CM000669.2:g.87503914C>A	GRCh38
NC_000007.13:g.87133230C>A , CM000669.1:g.87133230C>A	GRCh37
NC_000007.12:g.86971166C>A	NCBI36
NG_011513.1:g.214335G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000265724.8:c.*329G>T	ENSP00000265724.3:n.*329G>T
ENST00000622132.5:c.*329G>T MANE Select	ENSP00000478255.1:n.*329G>T
ENST00000265724.7:c.*329G>T	ENSP00000265724.3:n.*329G>T
ENST00000488737.6:n.1814G>T
ENST00000543898.5:c.*329G>T	ENSP00000444095.1:n.*329G>T
ENST00000622132.4:c.*329G>T	ENSP00000478255.1:n.*329G>T
NM_000927.4:c.*329G>T	NP_000918.2:n.*329G>T
NM_001348944.1:c.*329G>T	NP_001335873.1:n.*329G>T
NM_001348945.1:c.*329G>T	NP_001335874.1:n.*329G>T
NM_001348946.1:c.*329G>T	NP_001335875.1:n.*329G>T
NM_001348946.2:c.*329G>T MANE Select	NP_001335875.1:n.*329G>T
NM_000927.5:c.*329G>T	NP_000918.2:n.*329G>T
NM_001348944.2:c.*329G>T	NP_001335873.1:n.*329G>T
NM_001348945.2:c.*329G>T	NP_001335874.1:n.*329G>T