Canonical Allele Identifier: CA401357297

Gene: CCDC40

Linked Data

• MyVariant Identifiers: chr17:g.78073326A>G (hg19) ; chr17:g.80099527A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80099527A>G , CM000679.2:g.80099527A>G	GRCh38
NC_000017.10:g.78073326A>G , CM000679.1:g.78073326A>G	GRCh37
NC_000017.9:g.75687921A>G	NCBI36
NG_009822.1:g.2972A>G , LRG_673:g.2972A>G
NG_029761.1:g.67896A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397545.9:c.3181A>G MANE Select	ENSP00000380679.4:p.Asn1061Asp
ENST00000397545.8:c.3181A>G	ENSP00000380679.4:p.Asn1061Asp
ENST00000574799.5:n.2718A>G
NM_017950.3:c.3181A>G	NP_060420.2:p.Asn1061Asp
XM_011524963.1:c.3091A>G	XP_011523265.1:p.Asn1031Asp
XM_011524964.1:c.2002A>G	XP_011523266.1:p.Asn668Asp
XM_011524963.3:c.3091A>G	XP_011523265.1:p.Asn1031Asp
XM_011524964.3:c.2002A>G	XP_011523266.1:p.Asn668Asp
XM_024450821.1:c.3091A>G	XP_024306589.1:p.Asn1031Asp
XR_934495.2:n.3299A>G
NM_017950.4:c.3181A>G MANE Select	NP_060420.2:p.Asn1061Asp