Canonical Allele Identifier: CA4328320

Gene: ABCB1

Linked Data

• dbSNP Id: rs761999329
• ExAC: 7:87179335 A / C
• gnomAD v2: 7-87179335-A-C
• gnomAD v4: 7-87550019-A-C
• MyVariant Identifiers: chr7:g.87179335A>C (hg19) ; chr7:g.87550019A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.87550019A>C , CM000669.2:g.87550019A>C	GRCh38
NC_000007.13:g.87179335A>C , CM000669.1:g.87179335A>C	GRCh37
NC_000007.12:g.87017271A>C	NCBI36
NG_011513.1:g.168230T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265724.8:c.1386T>G	ENSP00000265724.3:p.Asn462Lys
ENST00000622132.5:c.1386T>G MANE Select	ENSP00000478255.1:p.Asn462Lys
ENST00000265724.7:c.1386T>G	ENSP00000265724.3:p.Asn462Lys
ENST00000482527.1:n.140T>G
ENST00000543898.5:c.1194T>G	ENSP00000444095.1:p.Asn398Lys
ENST00000622132.4:c.1386T>G	ENSP00000478255.1:p.Asn462Lys
NM_000927.4:c.1386T>G	NP_000918.2:p.Asn462Lys
NM_001348944.1:c.1386T>G	NP_001335873.1:p.Asn462Lys
NM_001348945.1:c.1596T>G	NP_001335874.1:p.Asn532Lys
NM_001348946.1:c.1386T>G	NP_001335875.1:p.Asn462Lys
NM_001348946.2:c.1386T>G MANE Select	NP_001335875.1:p.Asn462Lys
NM_000927.5:c.1386T>G	NP_000918.2:p.Asn462Lys
NM_001348944.2:c.1386T>G	NP_001335873.1:p.Asn462Lys
NM_001348945.2:c.1596T>G	NP_001335874.1:p.Asn532Lys