Canonical Allele Identifier: CA4817281
Gene: CPQ HGNC NCBI
MyVariant.info:
GRCh38 chr8:g.96879854G>A
GRCh37 chr8:g.97892082G>A
Revel Score:
ENST00000220763 (MANE Select) 0.557
gnomAD v2:
8:97892082 G / A
gnomAD v3:
8:96879854 G / A
gnomAD v4:
chr8-96879854-G-A
Joint Max Group AF 0.00000803 (NFE)
Exomes Max Group AF 0.0000081 (NFE)
ClinVar RCV:
RCV004123814
ClinVar Variation:
2271948
dbSNP:
368218633
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.96879854G>A , CM000670.2:g.96879854G>A GRCh38
NC_000008.10:g.97892082G>A , CM000670.1:g.97892082G>A GRCh37
NC_000008.9:g.97961258G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000220763.10:c.698G>A MANE Select ENSP00000220763.5:p.Cys233Tyr
ENST00000220763.9:c.698G>A ENSP00000220763.5:p.Cys233Tyr
NM_016134.3:c.698G>A NP_057218.1:p.Cys233Tyr
XM_005250755.1:c.698G>A XP_005250812.1:p.Cys233Tyr
XM_011516793.1:c.698G>A XP_011515095.1:p.Cys233Tyr
XM_011516794.1:c.698G>A XP_011515096.1:p.Cys233Tyr
XR_428374.1:n.975G>A
XR_928286.1:n.908G>A
NM_016134.4:c.698G>A MANE Select NP_057218.1:p.Cys233Tyr
Search 100 bp 5'
Search 100 bp 3'