Canonical Allele Identifier: CA401350759

Gene: CCDC40

Linked Data

• MyVariant Identifiers: chr17:g.78063564C>A (hg19) ; chr17:g.80089765C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80089765C>A , CM000679.2:g.80089765C>A	GRCh38
NC_000017.10:g.78063564C>A , CM000679.1:g.78063564C>A	GRCh37
NC_000017.9:g.75678159C>A	NCBI36
NG_029761.1:g.58134C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000397545.9:c.2713C>A MANE Select	ENSP00000380679.4:p.His905Asn
ENST00000374877.7:c.2713C>A	ENSP00000364011.3:p.His905Asn
ENST00000397545.8:c.2713C>A	ENSP00000380679.4:p.His905Asn
ENST00000572253.5:n.2964C>A
ENST00000573903.1:n.375C>A
ENST00000574799.5:n.2250C>A
ENST00000575431.1:n.357C>A
NM_001243342.1:c.2713C>A	NP_001230271.1:p.His905Asn
NM_017950.3:c.2713C>A	NP_060420.2:p.His905Asn
XM_011524963.1:c.2623C>A	XP_011523265.1:p.His875Asn
XM_011524964.1:c.1534C>A	XP_011523266.1:p.His512Asn
XR_934495.1:n.2831C>A
XM_011524963.3:c.2623C>A	XP_011523265.1:p.His875Asn
XM_011524964.3:c.1534C>A	XP_011523266.1:p.His512Asn
XM_024450821.1:c.2623C>A	XP_024306589.1:p.His875Asn
XR_934495.2:n.2831C>A
NM_017950.4:c.2713C>A MANE Select	NP_060420.2:p.His905Asn
NM_001243342.2:c.2713C>A	NP_001230271.1:p.His905Asn