Canonical Allele Identifier: CA401350788

Gene: CCDC40

Linked Data

• MyVariant Identifiers: chr17:g.78063570A>G (hg19) ; chr17:g.80089771A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80089771A>G , CM000679.2:g.80089771A>G	GRCh38
NC_000017.10:g.78063570A>G , CM000679.1:g.78063570A>G	GRCh37
NC_000017.9:g.75678165A>G	NCBI36
NG_029761.1:g.58140A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000397545.9:c.2719A>G MANE Select	ENSP00000380679.4:p.Ile907Val
ENST00000374877.7:c.2719A>G	ENSP00000364011.3:p.Ile907Val
ENST00000397545.8:c.2719A>G	ENSP00000380679.4:p.Ile907Val
ENST00000572253.5:n.2970A>G
ENST00000573903.1:n.381A>G
ENST00000574799.5:n.2256A>G
ENST00000575431.1:n.363A>G
NM_001243342.1:c.2719A>G	NP_001230271.1:p.Ile907Val
NM_017950.3:c.2719A>G	NP_060420.2:p.Ile907Val
XM_011524963.1:c.2629A>G	XP_011523265.1:p.Ile877Val
XM_011524964.1:c.1540A>G	XP_011523266.1:p.Ile514Val
XR_934495.1:n.2837A>G
XM_011524963.3:c.2629A>G	XP_011523265.1:p.Ile877Val
XM_011524964.3:c.1540A>G	XP_011523266.1:p.Ile514Val
XM_024450821.1:c.2629A>G	XP_024306589.1:p.Ile877Val
XR_934495.2:n.2837A>G
NM_017950.4:c.2719A>G MANE Select	NP_060420.2:p.Ile907Val
NM_001243342.2:c.2719A>G	NP_001230271.1:p.Ile907Val