Canonical Allele Identifier: CA401350864

Gene: CCDC40

Linked Data

• MyVariant Identifiers: chr17:g.78063584G>C (hg19) ; chr17:g.80089785G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80089785G>C , CM000679.2:g.80089785G>C	GRCh38
NC_000017.10:g.78063584G>C , CM000679.1:g.78063584G>C	GRCh37
NC_000017.9:g.75678179G>C	NCBI36
NG_029761.1:g.58154G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000397545.9:c.2733G>C MANE Select	ENSP00000380679.4:p.Glu911Asp
ENST00000374877.7:c.2733G>C	ENSP00000364011.3:p.Glu911Asp
ENST00000397545.8:c.2733G>C	ENSP00000380679.4:p.Glu911Asp
ENST00000572253.5:n.2984G>C
ENST00000573903.1:n.395G>C
ENST00000574799.5:n.2270G>C
ENST00000575431.1:n.377G>C
NM_001243342.1:c.2733G>C	NP_001230271.1:p.Glu911Asp
NM_017950.3:c.2733G>C	NP_060420.2:p.Glu911Asp
XM_011524963.1:c.2643G>C	XP_011523265.1:p.Glu881Asp
XM_011524964.1:c.1554G>C	XP_011523266.1:p.Glu518Asp
XR_934495.1:n.2851G>C
XM_011524963.3:c.2643G>C	XP_011523265.1:p.Glu881Asp
XM_011524964.3:c.1554G>C	XP_011523266.1:p.Glu518Asp
XM_024450821.1:c.2643G>C	XP_024306589.1:p.Glu881Asp
XR_934495.2:n.2851G>C
NM_017950.4:c.2733G>C MANE Select	NP_060420.2:p.Glu911Asp
NM_001243342.2:c.2733G>C	NP_001230271.1:p.Glu911Asp