Canonical Allele Identifier: CA502176352

Gene: CCDC40

Linked Data

• dbSNP Id: rs1253585859
• gnomAD v2: 17-78073334-A-G
• gnomAD v4: 17-80099535-A-G
• MyVariant Identifiers: chr17:g.78073334A>G (hg19) ; chr17:g.80099535A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80099535A>G , CM000679.2:g.80099535A>G	GRCh38
NC_000017.10:g.78073334A>G , CM000679.1:g.78073334A>G	GRCh37
NC_000017.9:g.75687929A>G	NCBI36
NG_009822.1:g.2980A>G , LRG_673:g.2980A>G
NG_029761.1:g.67904A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000397545.9:c.3189A>G MANE Select	ENSP00000380679.4:p.Ser1063=
ENST00000397545.8:c.3189A>G	ENSP00000380679.4:p.Ser1063=
ENST00000574799.5:n.2726A>G
NM_017950.3:c.3189A>G	NP_060420.2:p.Ser1063=
XM_011524963.1:c.3099A>G	XP_011523265.1:p.Ser1033=
XM_011524964.1:c.2010A>G	XP_011523266.1:p.Ser670=
XM_011524963.3:c.3099A>G	XP_011523265.1:p.Ser1033=
XM_011524964.3:c.2010A>G	XP_011523266.1:p.Ser670=
XM_024450821.1:c.3099A>G	XP_024306589.1:p.Ser1033=
XR_934495.2:n.3307A>G
NM_017950.4:c.3189A>G MANE Select	NP_060420.2:p.Ser1063=