Canonical Allele Identifier: CA401358123

Gene: CCDC40

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80099704C>T , CM000679.2:g.80099704C>T	GRCh38
NC_000017.10:g.78073503C>T , CM000679.1:g.78073503C>T	GRCh37
NC_000017.9:g.75688098C>T	NCBI36
NG_009822.1:g.3149C>T , LRG_673:g.3149C>T
NG_029761.1:g.68073C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_017950.4:c.3358C>T MANE Select	NP_060420.2:p.Gln1120Ter
ENST00000397545.9:c.3358C>T MANE Select	ENSP00000380679.4:p.Gln1120Ter
NM_017950.3:c.3358C>T	NP_060420.2:p.Gln1120Ter
ENST00000397545.8:c.3358C>T	ENSP00000380679.4:p.Gln1120Ter
ENST00000574799.5:n.2895C>T
XM_011524963.1:c.3268C>T	XP_011523265.1:p.Gln1090Ter
XM_011524963.3:c.3268C>T	XP_011523265.1:p.Gln1090Ter
XM_011524964.1:c.2179C>T	XP_011523266.1:p.Gln727Ter
XM_011524964.3:c.2179C>T	XP_011523266.1:p.Gln727Ter
XM_024450821.1:c.3268C>T	XP_024306589.1:p.Gln1090Ter
XR_934495.2:n.3476C>T