Canonical Allele Identifier: CA401350757

Gene: CCDC40

Linked Data

• MyVariant Identifiers: chr17:g.78063563A>T (hg19) ; chr17:g.80089764A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80089764A>T , CM000679.2:g.80089764A>T	GRCh38
NC_000017.10:g.78063563A>T , CM000679.1:g.78063563A>T	GRCh37
NC_000017.9:g.75678158A>T	NCBI36
NG_029761.1:g.58133A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000397545.9:c.2712A>T MANE Select	ENSP00000380679.4:p.Glu904Asp
ENST00000374877.7:c.2712A>T	ENSP00000364011.3:p.Glu904Asp
ENST00000397545.8:c.2712A>T	ENSP00000380679.4:p.Glu904Asp
ENST00000572253.5:n.2963A>T
ENST00000573903.1:n.374A>T
ENST00000574799.5:n.2249A>T
ENST00000575431.1:n.356A>T
NM_001243342.1:c.2712A>T	NP_001230271.1:p.Glu904Asp
NM_017950.3:c.2712A>T	NP_060420.2:p.Glu904Asp
XM_011524963.1:c.2622A>T	XP_011523265.1:p.Glu874Asp
XM_011524964.1:c.1533A>T	XP_011523266.1:p.Glu511Asp
XR_934495.1:n.2830A>T
XM_011524963.3:c.2622A>T	XP_011523265.1:p.Glu874Asp
XM_011524964.3:c.1533A>T	XP_011523266.1:p.Glu511Asp
XM_024450821.1:c.2622A>T	XP_024306589.1:p.Glu874Asp
XR_934495.2:n.2830A>T
NM_017950.4:c.2712A>T MANE Select	NP_060420.2:p.Glu904Asp
NM_001243342.2:c.2712A>T	NP_001230271.1:p.Glu904Asp