Canonical Allele Identifier: CA986718347

Gene: CCDC40

Linked Data

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

Genomic Alleles

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

Transcript Alleles

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