Canonical Allele Identifier: CA401350808

Gene: CCDC40

Linked Data

• MyVariant Identifiers: chr17:g.78063574T>A (hg19) ; chr17:g.80089775T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80089775T>A , CM000679.2:g.80089775T>A	GRCh38
NC_000017.10:g.78063574T>A , CM000679.1:g.78063574T>A	GRCh37
NC_000017.9:g.75678169T>A	NCBI36
NG_029761.1:g.58144T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000397545.9:c.2723T>A MANE Select	ENSP00000380679.4:p.Met908Lys
ENST00000374877.7:c.2723T>A	ENSP00000364011.3:p.Met908Lys
ENST00000397545.8:c.2723T>A	ENSP00000380679.4:p.Met908Lys
ENST00000572253.5:n.2974T>A
ENST00000573903.1:n.385T>A
ENST00000574799.5:n.2260T>A
ENST00000575431.1:n.367T>A
NM_001243342.1:c.2723T>A	NP_001230271.1:p.Met908Lys
NM_017950.3:c.2723T>A	NP_060420.2:p.Met908Lys
XM_011524963.1:c.2633T>A	XP_011523265.1:p.Met878Lys
XM_011524964.1:c.1544T>A	XP_011523266.1:p.Met515Lys
XR_934495.1:n.2841T>A
XM_011524963.3:c.2633T>A	XP_011523265.1:p.Met878Lys
XM_011524964.3:c.1544T>A	XP_011523266.1:p.Met515Lys
XM_024450821.1:c.2633T>A	XP_024306589.1:p.Met878Lys
XR_934495.2:n.2841T>A
NM_017950.4:c.2723T>A MANE Select	NP_060420.2:p.Met908Lys
NM_001243342.2:c.2723T>A	NP_001230271.1:p.Met908Lys