Canonical Allele Identifier: CA502176351

Gene: CCDC40

Linked Data

• gnomAD v4: 17-80099535-A-C
• MyVariant Identifiers: chr17:g.78073334A>C (hg19)

Genomic Alleles

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

Transcript Alleles

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