Canonical Allele Identifier: CA9528791
Gene: CCDC8 HGNC NCBI
MyVariant.info:
GRCh38 chr19:g.46412768G>A
GRCh37 chr19:g.46916025G>A
Revel Score:
ENST00000307522 (MANE Select) 0.145
ENST00000540252 0.145
gnomAD v2:
19:46916025 G / A
gnomAD v3:
19:46412768 G / A
gnomAD v4:
chr19-46412768-G-A
Joint Max Group AF 0.00394775 (AMR)
Genomes Max Group AF 0.00141307 (AMR)
Exomes Max Group AF 0.0046604 (AMR)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.46412768G>A , CM000681.2:g.46412768G>A GRCh38
NC_000019.9:g.46916025G>A , CM000681.1:g.46916025G>A GRCh37
NC_000019.8:g.51607865G>A NCBI36
NG_031956.1:g.5895C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000697726.1:c.253C>T ENSP00000513420.1:p.Arg85Trp
ENST00000307522.5:c.43C>T MANE Select ENSP00000303158.3:p.Arg15Trp
ENST00000307522.3:c.43C>T ENSP00000303158.3:p.Arg15Trp
NM_032040.4:c.43C>T NP_114429.2:p.Arg15Trp
NM_032040.5:c.43C>T MANE Select NP_114429.2:p.Arg15Trp
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