Canonical Allele Identifier: CA8814192

Gene: CCDC40

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80086207C>T , CM000679.2:g.80086207C>T	GRCh38
NC_000017.10:g.78060006C>T , CM000679.1:g.78060006C>T	GRCh37
NC_000017.9:g.75674601C>T	NCBI36
NG_029761.1:g.54576C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_017950.4:c.2440C>T MANE Select	NP_060420.2:p.Arg814Ter
ENST00000397545.9:c.2440C>T MANE Select	ENSP00000380679.4:p.Arg814Ter
NM_001243342.1:c.2440C>T	NP_001230271.1:p.Arg814Ter
NM_001243342.2:c.2440C>T	NP_001230271.1:p.Arg814Ter
NM_017950.3:c.2440C>T	NP_060420.2:p.Arg814Ter
ENST00000374877.7:c.2440C>T	ENSP00000364011.3:p.Arg814Ter
ENST00000397545.8:c.2440C>T	ENSP00000380679.4:p.Arg814Ter
ENST00000572253.5:n.1067C>T
ENST00000574799.5:n.1977C>T
XM_011524963.1:c.2350C>T	XP_011523265.1:p.Arg784Ter
XM_011524963.3:c.2350C>T	XP_011523265.1:p.Arg784Ter
XM_011524964.1:c.1261C>T	XP_011523266.1:p.Arg421Ter
XM_011524964.3:c.1261C>T	XP_011523266.1:p.Arg421Ter
XM_024450821.1:c.2350C>T	XP_024306589.1:p.Arg784Ter
XR_001752550.2:n.2471C>T
XR_934495.1:n.2471C>T
XR_934495.2:n.2471C>T