Canonical Allele Identifier: CA4328318

Gene: ABCB1

Linked Data

• dbSNP Id: rs559003378
• ExAC: 7:87179334 C / A
• gnomAD v3: 7-87550018-C-A
• gnomAD v4: 7-87550018-C-A
• MyVariant Identifiers: chr7:g.87179334C>A (hg19) ; chr7:g.87550018C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.87550018C>A , CM000669.2:g.87550018C>A	GRCh38
NC_000007.13:g.87179334C>A , CM000669.1:g.87179334C>A	GRCh37
NC_000007.12:g.87017270C>A	NCBI36
NG_011513.1:g.168231G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265724.8:c.1387G>T	ENSP00000265724.3:p.Val463Leu
ENST00000622132.5:c.1387G>T MANE Select	ENSP00000478255.1:p.Val463Leu
ENST00000265724.7:c.1387G>T	ENSP00000265724.3:p.Val463Leu
ENST00000482527.1:n.141G>T
ENST00000543898.5:c.1195G>T	ENSP00000444095.1:p.Val399Leu
ENST00000622132.4:c.1387G>T	ENSP00000478255.1:p.Val463Leu
NM_000927.4:c.1387G>T	NP_000918.2:p.Val463Leu
NM_001348944.1:c.1387G>T	NP_001335873.1:p.Val463Leu
NM_001348945.1:c.1597G>T	NP_001335874.1:p.Val533Leu
NM_001348946.1:c.1387G>T	NP_001335875.1:p.Val463Leu
NM_001348946.2:c.1387G>T MANE Select	NP_001335875.1:p.Val463Leu
NM_000927.5:c.1387G>T	NP_000918.2:p.Val463Leu
NM_001348944.2:c.1387G>T	NP_001335873.1:p.Val463Leu
NM_001348945.2:c.1597G>T	NP_001335874.1:p.Val533Leu