Canonical Allele Identifier: CA294883188

Gene: CCDC40

Linked Data

• dbSNP Id: rs960226185
• gnomAD v3: 17-80100340-A-G
• gnomAD v4: 17-80100340-A-G
• MyVariant Identifiers: chr17:g.78074139A>G (hg19) ; chr17:g.80100340A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80100340A>G , CM000679.2:g.80100340A>G	GRCh38
NC_000017.10:g.78074139A>G , CM000679.1:g.78074139A>G	GRCh37
NC_000017.9:g.75688734A>G	NCBI36
NG_009822.1:g.3785A>G , LRG_673:g.3785A>G
NG_029761.1:g.68709A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397545.9:c.*565A>G MANE Select	ENSP00000380679.4:n.*565A>G
ENST00000397545.8:c.*565A>G	ENSP00000380679.4:n.*565A>G
ENST00000574799.5:n.3531A>G
NM_017950.3:c.*565A>G	NP_060420.2:n.*565A>G
XM_011524963.1:c.*565A>G	XP_011523265.1:n.*565A>G
XM_011524964.1:c.*565A>G	XP_011523266.1:n.*565A>G
XM_011524963.3:c.*565A>G	XP_011523265.1:n.*565A>G
XM_011524964.3:c.*565A>G	XP_011523266.1:n.*565A>G
XM_024450821.1:c.*565A>G	XP_024306589.1:n.*565A>G
XR_934495.2:n.4112A>G
NM_017950.4:c.*565A>G MANE Select	NP_060420.2:n.*565A>G