Canonical Allele Identifier: CA401350800

Gene: CCDC40

Linked Data

• ClinVar Variation Id: 1346011
• ClinVar RCV Id: RCV002029791
• dbSNP Id: rs2038663366
• MyVariant Identifiers: chr17:g.78063572T>G (hg19) ; chr17:g.80089773T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80089773T>G , CM000679.2:g.80089773T>G	GRCh38
NC_000017.10:g.78063572T>G , CM000679.1:g.78063572T>G	GRCh37
NC_000017.9:g.75678167T>G	NCBI36
NG_029761.1:g.58142T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000397545.9:c.2721T>G MANE Select	ENSP00000380679.4:p.Ile907Met
ENST00000374877.7:c.2721T>G	ENSP00000364011.3:p.Ile907Met
ENST00000397545.8:c.2721T>G	ENSP00000380679.4:p.Ile907Met
ENST00000572253.5:n.2972T>G
ENST00000573903.1:n.383T>G
ENST00000574799.5:n.2258T>G
ENST00000575431.1:n.365T>G
NM_001243342.1:c.2721T>G	NP_001230271.1:p.Ile907Met
NM_017950.3:c.2721T>G	NP_060420.2:p.Ile907Met
XM_011524963.1:c.2631T>G	XP_011523265.1:p.Ile877Met
XM_011524964.1:c.1542T>G	XP_011523266.1:p.Ile514Met
XR_934495.1:n.2839T>G
XM_011524963.3:c.2631T>G	XP_011523265.1:p.Ile877Met
XM_011524964.3:c.1542T>G	XP_011523266.1:p.Ile514Met
XM_024450821.1:c.2631T>G	XP_024306589.1:p.Ile877Met
XR_934495.2:n.2839T>G
NM_017950.4:c.2721T>G MANE Select	NP_060420.2:p.Ile907Met
NM_001243342.2:c.2721T>G	NP_001230271.1:p.Ile907Met