Canonical Allele Identifier: CA4327687
Gene: ABCB1 HGNC NCBI
COSMIC:
COSM197657
MyVariant.info:
GRCh38 chr7:g.87504335C>T
GRCh37 chr7:g.87133651C>T
Revel Score:
ENST00000543174 0.025
ENST00000265724 0.025
ENST00000543898 0.025
gnomAD v2:
7:87133651 C / T
gnomAD v3:
7:87504335 C / T
gnomAD v4:
chr7-87504335-C-T
Joint Max Group AF 0.03390315 (AMR)
Genomes Max Group AF 0.04166755 (AMR)
Exomes Max Group AF 0.03059794 (AMR)
ClinVar RCV:
RCV000959670
ClinVar Variation:
778935
dbSNP:
28364274
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.87504335C>T , CM000669.2:g.87504335C>T GRCh38
NC_000007.13:g.87133651C>T , CM000669.1:g.87133651C>T GRCh37
NC_000007.12:g.86971587C>T NCBI36
NG_011513.1:g.213914G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000265724.8:c.3751G>A ENSP00000265724.3:p.Val1251Ile
ENST00000622132.5:c.3751G>A MANE Select ENSP00000478255.1:p.Val1251Ile
ENST00000265724.7:c.3751G>A ENSP00000265724.3:p.Val1251Ile
ENST00000488737.6:n.1393G>A
ENST00000491360.1:n.360G>A
ENST00000543898.5:c.3559G>A ENSP00000444095.1:p.Val1187Ile
ENST00000622132.4:c.3751G>A ENSP00000478255.1:p.Val1251Ile
NM_000927.4:c.3751G>A NP_000918.2:p.Val1251Ile
NM_001348944.1:c.3751G>A NP_001335873.1:p.Val1251Ile
NM_001348945.1:c.3961G>A NP_001335874.1:p.Val1321Ile
NM_001348946.1:c.3751G>A NP_001335875.1:p.Val1251Ile
NM_001348946.2:c.3751G>A MANE Select NP_001335875.1:p.Val1251Ile
NM_000927.5:c.3751G>A NP_000918.2:p.Val1251Ile
NM_001348944.2:c.3751G>A NP_001335873.1:p.Val1251Ile
NM_001348945.2:c.3961G>A NP_001335874.1:p.Val1321Ile
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