Canonical Allele Identifier: CA401357296

Gene: CCDC40

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000397545.9:c.3181A>T MANE Select	ENSP00000380679.4:p.Asn1061Tyr
ENST00000397545.8:c.3181A>T	ENSP00000380679.4:p.Asn1061Tyr
ENST00000574799.5:n.2718A>T
NM_017950.3:c.3181A>T	NP_060420.2:p.Asn1061Tyr
XM_011524963.1:c.3091A>T	XP_011523265.1:p.Asn1031Tyr
XM_011524964.1:c.2002A>T	XP_011523266.1:p.Asn668Tyr
XM_011524963.3:c.3091A>T	XP_011523265.1:p.Asn1031Tyr
XM_011524964.3:c.2002A>T	XP_011523266.1:p.Asn668Tyr
XM_024450821.1:c.3091A>T	XP_024306589.1:p.Asn1031Tyr
XR_934495.2:n.3299A>T
NM_017950.4:c.3181A>T MANE Select	NP_060420.2:p.Asn1061Tyr