Canonical Allele Identifier: CA2598861656

Gene: CCDC40

Linked Data

• dbSNP Id: rs2038888452
• gnomAD v3: 17-80099857-G-A
• gnomAD v4: 17-80099857-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80099857G>A , CM000679.2:g.80099857G>A	GRCh38
NC_000017.10:g.78073656G>A , CM000679.1:g.78073656G>A	GRCh37
NC_000017.9:g.75688251G>A	NCBI36
NG_009822.1:g.3302G>A , LRG_673:g.3302G>A
NG_029761.1:g.68226G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000397545.9:c.*82G>A MANE Select	ENSP00000380679.4:n.*82G>A
ENST00000397545.8:c.*82G>A	ENSP00000380679.4:n.*82G>A
ENST00000574799.5:n.3048G>A
NM_017950.3:c.*82G>A	NP_060420.2:n.*82G>A
XM_011524963.1:c.*82G>A	XP_011523265.1:n.*82G>A
XM_011524964.1:c.*82G>A	XP_011523266.1:n.*82G>A
XM_011524963.3:c.*82G>A	XP_011523265.1:n.*82G>A
XM_011524964.3:c.*82G>A	XP_011523266.1:n.*82G>A
XM_024450821.1:c.*82G>A	XP_024306589.1:n.*82G>A
XR_934495.2:n.3629G>A
NM_017950.4:c.*82G>A MANE Select	NP_060420.2:n.*82G>A