Canonical Allele Identifier: CA401357308

Gene: CCDC40

Linked Data

• dbSNP Id: rs1239171033
• gnomAD v2: 17-78073330-T-G
• gnomAD v3: 17-80099531-T-G
• gnomAD v4: 17-80099531-T-G
• MyVariant Identifiers: chr17:g.78073330T>G (hg19) ; chr17:g.80099531T>G (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000397545.9:c.3185T>G MANE Select	ENSP00000380679.4:p.Leu1062Arg
ENST00000397545.8:c.3185T>G	ENSP00000380679.4:p.Leu1062Arg
ENST00000574799.5:n.2722T>G
NM_017950.3:c.3185T>G	NP_060420.2:p.Leu1062Arg
XM_011524963.1:c.3095T>G	XP_011523265.1:p.Leu1032Arg
XM_011524964.1:c.2006T>G	XP_011523266.1:p.Leu669Arg
XM_011524963.3:c.3095T>G	XP_011523265.1:p.Leu1032Arg
XM_011524964.3:c.2006T>G	XP_011523266.1:p.Leu669Arg
XM_024450821.1:c.3095T>G	XP_024306589.1:p.Leu1032Arg
XR_934495.2:n.3303T>G
NM_017950.4:c.3185T>G MANE Select	NP_060420.2:p.Leu1062Arg