Canonical Allele Identifier: CA4328332

Gene: ABCB1

Linked Data

• ClinVar Variation Id: 829475
• ClinVar RCV Id: RCV001029398
• dbSNP Id: rs2032588
• ExAC: 7:87179443 G / A
• gnomAD v2: 7-87179443-G-A
• gnomAD v3: 7-87550127-G-A
• gnomAD v4: 7-87550127-G-A
• MyVariant Identifiers: chr7:g.87179443G>A (hg19) ; chr7:g.87550127G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.87550127G>A , CM000669.2:g.87550127G>A	GRCh38
NC_000007.13:g.87179443G>A , CM000669.1:g.87179443G>A	GRCh37
NC_000007.12:g.87017379G>A	NCBI36
NG_011513.1:g.168122C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265724.8:c.1350+44C>T	ENSP00000265724.3:n.1350+44C>T
ENST00000622132.5:c.1350+44C>T MANE Select	ENSP00000478255.1:n.1350+44C>T
ENST00000265724.7:c.1350+44C>T	ENSP00000265724.3:n.1350+44C>T
ENST00000482527.1:n.32C>T
ENST00000543898.5:c.1158+44C>T	ENSP00000444095.1:n.1158+44C>T
ENST00000622132.4:c.1350+44C>T	ENSP00000478255.1:n.1350+44C>T
NM_000927.4:c.1350+44C>T	NP_000918.2:n.1350+44C>T
NM_001348944.1:c.1350+44C>T	NP_001335873.1:n.1350+44C>T
NM_001348945.1:c.1560+44C>T	NP_001335874.1:n.1560+44C>T
NM_001348946.1:c.1350+44C>T	NP_001335875.1:n.1350+44C>T
NM_001348946.2:c.1350+44C>T MANE Select	NP_001335875.1:n.1350+44C>T
NM_000927.5:c.1350+44C>T	NP_000918.2:n.1350+44C>T
NM_001348944.2:c.1350+44C>T	NP_001335873.1:n.1350+44C>T
NM_001348945.2:c.1560+44C>T	NP_001335874.1:n.1560+44C>T