Canonical Allele Identifier: CA200911
Gene: ABCB1 HGNC NCBI
MyVariant.info:
GRCh38 chr7:g.87550493C>T
GRCh37 chr7:g.87179809C>T
Revel Score:
ENST00000543174 0.261
ENST00000265724 0.261
ENST00000543898 0.261
gnomAD v2:
7:87179809 C / T
gnomAD v3:
7:87550493 C / T
gnomAD v4:
chr7-87550493-C-T
Joint Max Group AF 0.0376825 (NFE)
Genomes Max Group AF 0.0389456 (NFE)
Exomes Max Group AF 0.03753788 (NFE)
ClinVar RCV:
RCV000174262
RCV003975269
ClinVar Variation:
194008
dbSNP:
2229109
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.87550493C>T , CM000669.2:g.87550493C>T GRCh38
NC_000007.13:g.87179809C>T , CM000669.1:g.87179809C>T GRCh37
NC_000007.12:g.87017745C>T NCBI36
NG_011513.1:g.167756G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000265724.8:c.1199G>A ENSP00000265724.3:p.Ser400Asn
ENST00000622132.5:c.1199G>A MANE Select ENSP00000478255.1:p.Ser400Asn
ENST00000265724.7:c.1199G>A ENSP00000265724.3:p.Ser400Asn
ENST00000543898.5:c.1007G>A ENSP00000444095.1:p.Ser336Asn
ENST00000622132.4:c.1199G>A ENSP00000478255.1:p.Ser400Asn
NM_000927.4:c.1199G>A NP_000918.2:p.Ser400Asn
NM_001348944.1:c.1199G>A NP_001335873.1:p.Ser400Asn
NM_001348945.1:c.1409G>A NP_001335874.1:p.Ser470Asn
NM_001348946.1:c.1199G>A NP_001335875.1:p.Ser400Asn
NM_001348946.2:c.1199G>A MANE Select NP_001335875.1:p.Ser400Asn
NM_000927.5:c.1199G>A NP_000918.2:p.Ser400Asn
NM_001348944.2:c.1199G>A NP_001335873.1:p.Ser400Asn
NM_001348945.2:c.1409G>A NP_001335874.1:p.Ser470Asn
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