Canonical Allele Identifier: CA4327770
Gene: ABCB1 HGNC NCBI
MyVariant.info:
GRCh38 chr7:g.87509343A>T
GRCh37 chr7:g.87138659A>T
Revel Score:
ENST00000543174 0.196
ENST00000265724 0.196
ENST00000543898 0.196
gnomAD v2:
7:87138659 A / T
gnomAD v3:
7:87509343 A / T
gnomAD v4:
chr7-87509343-A-T
Joint Max Group AF 0.06172165 (AFR)
Genomes Max Group AF 0.06034977 (AFR)
Exomes Max Group AF 0.0620439 (AFR)
ClinVar RCV:
RCV003921902
ClinVar Variation:
3038471
dbSNP:
2229107
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.87509343A>T , CM000669.2:g.87509343A>T GRCh38
NC_000007.13:g.87138659A>T , CM000669.1:g.87138659A>T GRCh37
NC_000007.12:g.86976595A>T NCBI36
NG_011513.1:g.208906T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000265724.8:c.3421T>A ENSP00000265724.3:p.Ser1141Thr
ENST00000622132.5:c.3421T>A MANE Select ENSP00000478255.1:p.Ser1141Thr
ENST00000265724.7:c.3421T>A ENSP00000265724.3:p.Ser1141Thr
ENST00000475929.5:n.577T>A
ENST00000488737.6:n.1063T>A
ENST00000543898.5:c.3229T>A ENSP00000444095.1:p.Ser1077Thr
ENST00000622132.4:c.3421T>A ENSP00000478255.1:p.Ser1141Thr
NM_000927.4:c.3421T>A NP_000918.2:p.Ser1141Thr
NM_001348944.1:c.3421T>A NP_001335873.1:p.Ser1141Thr
NM_001348945.1:c.3631T>A NP_001335874.1:p.Ser1211Thr
NM_001348946.1:c.3421T>A NP_001335875.1:p.Ser1141Thr
NM_001348946.2:c.3421T>A MANE Select NP_001335875.1:p.Ser1141Thr
NM_000927.5:c.3421T>A NP_000918.2:p.Ser1141Thr
NM_001348944.2:c.3421T>A NP_001335873.1:p.Ser1141Thr
NM_001348945.2:c.3631T>A NP_001335874.1:p.Ser1211Thr
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