Canonical Allele Identifier: CA401349741

Gene: CCDC40

Linked Data

• ClinVar Variation Id: 454884
• ClinVar RCV Id: RCV000549409
• dbSNP Id: rs773796940
• MyVariant Identifiers: chr17:g.78061861G>T (hg19) ; chr17:g.80088062G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80088062G>T , CM000679.2:g.80088062G>T	GRCh38
NC_000017.10:g.78061861G>T , CM000679.1:g.78061861G>T	GRCh37
NC_000017.9:g.75676456G>T	NCBI36
NG_029761.1:g.56431G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397545.9:c.2671G>T MANE Select	ENSP00000380679.4:p.Glu891Ter
ENST00000374877.7:c.2671G>T	ENSP00000364011.3:p.Glu891Ter
ENST00000397545.8:c.2671G>T	ENSP00000380679.4:p.Glu891Ter
ENST00000572253.5:n.2922G>T
ENST00000574799.5:n.2208G>T
ENST00000574933.1:n.176G>T
ENST00000575431.1:n.315G>T
NM_001243342.1:c.2671G>T	NP_001230271.1:p.Glu891Ter
NM_017950.3:c.2671G>T	NP_060420.2:p.Glu891Ter
XM_011524963.1:c.2581G>T	XP_011523265.1:p.Glu861Ter
XM_011524964.1:c.1492G>T	XP_011523266.1:p.Glu498Ter
XR_934495.1:n.2702G>T
XM_011524963.3:c.2581G>T	XP_011523265.1:p.Glu861Ter
XM_011524964.3:c.1492G>T	XP_011523266.1:p.Glu498Ter
XM_024450821.1:c.2581G>T	XP_024306589.1:p.Glu861Ter
XR_001752550.2:n.2702G>T
XR_934495.2:n.2702G>T
NM_017950.4:c.2671G>T MANE Select	NP_060420.2:p.Glu891Ter
NM_001243342.2:c.2671G>T	NP_001230271.1:p.Glu891Ter