Canonical Allele Identifier: CA4327893

Gene: ABCB1

Linked Data

• dbSNP Id: rs778961519
• ExAC: 7:87145951 C / T
• gnomAD v2: 7-87145951-C-T
• gnomAD v4: 7-87516635-C-T
• MyVariant Identifiers: chr7:g.87145951C>T (hg19) ; chr7:g.87516635C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.87516635C>T , CM000669.2:g.87516635C>T	GRCh38
NC_000007.13:g.87145951C>T , CM000669.1:g.87145951C>T	GRCh37
NC_000007.12:g.86983887C>T	NCBI36
NG_011513.1:g.201614G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265724.8:c.2958G>A	ENSP00000265724.3:p.Met986Ile
ENST00000622132.5:c.2958G>A MANE Select	ENSP00000478255.1:p.Met986Ile
ENST00000265724.7:c.2958G>A	ENSP00000265724.3:p.Met986Ile
ENST00000475929.5:n.114G>A
ENST00000483831.1:n.516G>A
ENST00000488737.6:n.600G>A
ENST00000496821.5:n.586G>A
ENST00000543898.5:c.2766G>A	ENSP00000444095.1:p.Met922Ile
ENST00000622132.4:c.2958G>A	ENSP00000478255.1:p.Met986Ile
NM_000927.4:c.2958G>A	NP_000918.2:p.Met986Ile
NM_001348944.1:c.2958G>A	NP_001335873.1:p.Met986Ile
NM_001348945.1:c.3168G>A	NP_001335874.1:p.Met1056Ile
NM_001348946.1:c.2958G>A	NP_001335875.1:p.Met986Ile
NM_001348946.2:c.2958G>A MANE Select	NP_001335875.1:p.Met986Ile
NM_000927.5:c.2958G>A	NP_000918.2:p.Met986Ile
NM_001348944.2:c.2958G>A	NP_001335873.1:p.Met986Ile
NM_001348945.2:c.3168G>A	NP_001335874.1:p.Met1056Ile