Canonical Allele Identifier: CA4328378

Gene: ABCB1

Linked Data

• dbSNP Id: rs761558156
• ExAC: 7:87179819 C / T
• gnomAD v2: 7-87179819-C-T
• gnomAD v4: 7-87550503-C-T
• MyVariant Identifiers: chr7:g.87179819C>T (hg19) ; chr7:g.87550503C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.87550503C>T , CM000669.2:g.87550503C>T	GRCh38
NC_000007.13:g.87179819C>T , CM000669.1:g.87179819C>T	GRCh37
NC_000007.12:g.87017755C>T	NCBI36
NG_011513.1:g.167746G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000265724.8:c.1189G>A	ENSP00000265724.3:p.Val397Ile
ENST00000622132.5:c.1189G>A MANE Select	ENSP00000478255.1:p.Val397Ile
ENST00000265724.7:c.1189G>A	ENSP00000265724.3:p.Val397Ile
ENST00000543898.5:c.997G>A	ENSP00000444095.1:p.Val333Ile
ENST00000622132.4:c.1189G>A	ENSP00000478255.1:p.Val397Ile
NM_000927.4:c.1189G>A	NP_000918.2:p.Val397Ile
NM_001348944.1:c.1189G>A	NP_001335873.1:p.Val397Ile
NM_001348945.1:c.1399G>A	NP_001335874.1:p.Val467Ile
NM_001348946.1:c.1189G>A	NP_001335875.1:p.Val397Ile
NM_001348946.2:c.1189G>A MANE Select	NP_001335875.1:p.Val397Ile
NM_000927.5:c.1189G>A	NP_000918.2:p.Val397Ile
NM_001348944.2:c.1189G>A	NP_001335873.1:p.Val397Ile
NM_001348945.2:c.1399G>A	NP_001335874.1:p.Val467Ile