Canonical Allele Identifier: CA401357313

Gene: CCDC40

Linked Data

• COSMIC: COSM3796187
• MyVariant Identifiers: chr17:g.78073333C>G (hg19) ; chr17:g.80099534C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80099534C>G , CM000679.2:g.80099534C>G	GRCh38
NC_000017.10:g.78073333C>G , CM000679.1:g.78073333C>G	GRCh37
NC_000017.9:g.75687928C>G	NCBI36
NG_009822.1:g.2979C>G , LRG_673:g.2979C>G
NG_029761.1:g.67903C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000397545.9:c.3188C>G MANE Select	ENSP00000380679.4:p.Ser1063Ter
ENST00000397545.8:c.3188C>G	ENSP00000380679.4:p.Ser1063Ter
ENST00000574799.5:n.2725C>G
NM_017950.3:c.3188C>G	NP_060420.2:p.Ser1063Ter
XM_011524963.1:c.3098C>G	XP_011523265.1:p.Ser1033Ter
XM_011524964.1:c.2009C>G	XP_011523266.1:p.Ser670Ter
XM_011524963.3:c.3098C>G	XP_011523265.1:p.Ser1033Ter
XM_011524964.3:c.2009C>G	XP_011523266.1:p.Ser670Ter
XM_024450821.1:c.3098C>G	XP_024306589.1:p.Ser1033Ter
XR_934495.2:n.3306C>G
NM_017950.4:c.3188C>G MANE Select	NP_060420.2:p.Ser1063Ter