Canonical Allele Identifier: CA401357307

Gene: CCDC40

Linked Data

• MyVariant Identifiers: chr17:g.78073330T>C (hg19) ; chr17:g.80099531T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80099531T>C , CM000679.2:g.80099531T>C	GRCh38
NC_000017.10:g.78073330T>C , CM000679.1:g.78073330T>C	GRCh37
NC_000017.9:g.75687925T>C	NCBI36
NG_009822.1:g.2976T>C , LRG_673:g.2976T>C
NG_029761.1:g.67900T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397545.9:c.3185T>C MANE Select	ENSP00000380679.4:p.Leu1062Pro
ENST00000397545.8:c.3185T>C	ENSP00000380679.4:p.Leu1062Pro
ENST00000574799.5:n.2722T>C
NM_017950.3:c.3185T>C	NP_060420.2:p.Leu1062Pro
XM_011524963.1:c.3095T>C	XP_011523265.1:p.Leu1032Pro
XM_011524964.1:c.2006T>C	XP_011523266.1:p.Leu669Pro
XM_011524963.3:c.3095T>C	XP_011523265.1:p.Leu1032Pro
XM_011524964.3:c.2006T>C	XP_011523266.1:p.Leu669Pro
XM_024450821.1:c.3095T>C	XP_024306589.1:p.Leu1032Pro
XR_934495.2:n.3303T>C
NM_017950.4:c.3185T>C MANE Select	NP_060420.2:p.Leu1062Pro