Canonical Allele Identifier: CA4327891

Gene: ABCB1

Linked Data

• dbSNP Id: rs753967146
• ExAC: 7:87145947 C / T
• gnomAD v2: 7-87145947-C-T
• gnomAD v3: 7-87516631-C-T
• gnomAD v4: 7-87516631-C-T
• MyVariant Identifiers: chr7:g.87145947C>T (hg19) ; chr7:g.87516631C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.87516631C>T , CM000669.2:g.87516631C>T	GRCh38
NC_000007.13:g.87145947C>T , CM000669.1:g.87145947C>T	GRCh37
NC_000007.12:g.86983883C>T	NCBI36
NG_011513.1:g.201618G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265724.8:c.2962G>A	ENSP00000265724.3:p.Val988Met
ENST00000622132.5:c.2962G>A MANE Select	ENSP00000478255.1:p.Val988Met
ENST00000265724.7:c.2962G>A	ENSP00000265724.3:p.Val988Met
ENST00000475929.5:n.118G>A
ENST00000483831.1:n.520G>A
ENST00000488737.6:n.604G>A
ENST00000496821.5:n.590G>A
ENST00000543898.5:c.2770G>A	ENSP00000444095.1:p.Val924Met
ENST00000622132.4:c.2962G>A	ENSP00000478255.1:p.Val988Met
NM_000927.4:c.2962G>A	NP_000918.2:p.Val988Met
NM_001348944.1:c.2962G>A	NP_001335873.1:p.Val988Met
NM_001348945.1:c.3172G>A	NP_001335874.1:p.Val1058Met
NM_001348946.1:c.2962G>A	NP_001335875.1:p.Val988Met
NM_001348946.2:c.2962G>A MANE Select	NP_001335875.1:p.Val988Met
NM_000927.5:c.2962G>A	NP_000918.2:p.Val988Met
NM_001348944.2:c.2962G>A	NP_001335873.1:p.Val988Met
NM_001348945.2:c.3172G>A	NP_001335874.1:p.Val1058Met