Canonical Allele Identifier: CA9528568
Gene: CCDC8 HGNC NCBI

Linked Data

ClinVar Variation Id: 377246
ClinVar RCV Id: RCV000431700
dbSNP Id: rs143086771
ExAC: 19:46915114 A / C
gnomAD v2: 19-46915114-A-C
gnomAD v3: 19-46411857-A-C
gnomAD v4: 19-46411857-A-C
MyVariant Identifiers: chr19:g.46915114A>C (hg19) chr19:g.46411857A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.46411857A>C , CM000681.2:g.46411857A>C GRCh38
NC_000019.9:g.46915114A>C , CM000681.1:g.46915114A>C GRCh37
NC_000019.8:g.51606954A>C NCBI36
NG_031956.1:g.6806T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000697726.1:c.1164T>G ENSP00000513420.1:p.Asn388Lys
ENST00000307522.5:c.954T>G MANE Select ENSP00000303158.3:p.Asn318Lys
ENST00000307522.3:c.954T>G ENSP00000303158.3:p.Asn318Lys
NM_032040.4:c.954T>G NP_114429.2:p.Asn318Lys
NM_032040.5:c.954T>G MANE Select NP_114429.2:p.Asn318Lys
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