Canonical Allele Identifier: CA401357317

Gene: CCDC40

Linked Data

• MyVariant Identifiers: chr17:g.78073335G>A (hg19) ; chr17:g.80099536G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80099536G>A , CM000679.2:g.80099536G>A	GRCh38
NC_000017.10:g.78073335G>A , CM000679.1:g.78073335G>A	GRCh37
NC_000017.9:g.75687930G>A	NCBI36
NG_009822.1:g.2981G>A , LRG_673:g.2981G>A
NG_029761.1:g.67905G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397545.9:c.3190G>A MANE Select	ENSP00000380679.4:p.Glu1064Lys
ENST00000397545.8:c.3190G>A	ENSP00000380679.4:p.Glu1064Lys
ENST00000574799.5:n.2727G>A
NM_017950.3:c.3190G>A	NP_060420.2:p.Glu1064Lys
XM_011524963.1:c.3100G>A	XP_011523265.1:p.Glu1034Lys
XM_011524964.1:c.2011G>A	XP_011523266.1:p.Glu671Lys
XM_011524963.3:c.3100G>A	XP_011523265.1:p.Glu1034Lys
XM_011524964.3:c.2011G>A	XP_011523266.1:p.Glu671Lys
XM_024450821.1:c.3100G>A	XP_024306589.1:p.Glu1034Lys
XR_934495.2:n.3308G>A
NM_017950.4:c.3190G>A MANE Select	NP_060420.2:p.Glu1064Lys