Canonical Allele Identifier: CA4328174

Gene: ABCB1

Linked Data

• ClinVar Variation Id: 828704
• ClinVar RCV Id: RCV001028614
• dbSNP Id: rs547093769
• ExAC: 7:87174327 A / G
• gnomAD v2: 7-87174327-A-G
• gnomAD v3: 7-87545011-A-G
• gnomAD v4: 7-87545011-A-G
• MyVariant Identifiers: chr7:g.87174327A>G (hg19) ; chr7:g.87545011A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.87545011A>G , CM000669.2:g.87545011A>G	GRCh38
NC_000007.13:g.87174327A>G , CM000669.1:g.87174327A>G	GRCh37
NC_000007.12:g.87012263A>G	NCBI36
NG_011513.1:g.173238T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000265724.8:c.1888-12T>C	ENSP00000265724.3:n.1888-12T>C
ENST00000622132.5:c.1888-12T>C MANE Select	ENSP00000478255.1:n.1888-12T>C
ENST00000265724.7:c.1888-12T>C	ENSP00000265724.3:n.1888-12T>C
ENST00000543898.5:c.1696-12T>C	ENSP00000444095.1:n.1696-12T>C
ENST00000622132.4:c.1888-12T>C	ENSP00000478255.1:n.1888-12T>C
NM_000927.4:c.1888-12T>C	NP_000918.2:n.1888-12T>C
NM_001348944.1:c.1888-12T>C	NP_001335873.1:n.1888-12T>C
NM_001348945.1:c.2098-12T>C	NP_001335874.1:n.2098-12T>C
NM_001348946.1:c.1888-12T>C	NP_001335875.1:n.1888-12T>C
NM_001348946.2:c.1888-12T>C MANE Select	NP_001335875.1:n.1888-12T>C
NM_000927.5:c.1888-12T>C	NP_000918.2:n.1888-12T>C
NM_001348944.2:c.1888-12T>C	NP_001335873.1:n.1888-12T>C
NM_001348945.2:c.2098-12T>C	NP_001335874.1:n.2098-12T>C