Canonical Allele Identifier: CA1871408

Gene: CCDC115

Linked Data

• ClinVar Variation Id: 445648
• ClinVar RCV Id: RCV000514149
• dbSNP Id: rs752919660
• ExAC: 2:131099698 T / C
• gnomAD v2: 2-131099698-T-C
• gnomAD v3: 2-130342125-T-C
• gnomAD v4: 2-130342125-T-C
• MyVariant Identifiers: chr2:g.131099698T>C (hg19) ; chr2:g.130342125T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.130342125T>C , CM000664.2:g.130342125T>C	GRCh38
NC_000002.11:g.131099698T>C , CM000664.1:g.131099698T>C	GRCh37
NC_000002.10:g.130816168T>C	NCBI36
NG_046779.1:g.5686A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000259229.7:c.1A>G MANE Select	ENSP00000259229.2:p.Met1Val
ENST00000651709.1:c.96+9A>G	ENSP00000499101.1:n.96+9A>G
ENST00000259229.6:c.1A>G	ENSP00000259229.2:p.Met1Val
ENST00000409127.1:c.96+9A>G	ENSP00000387301.1:n.96+9A>G
ENST00000442217.5:c.1A>G	ENSP00000403480.1:p.Met1Val
ENST00000465315.1:n.11A>G
NM_032357.3:c.1A>G	NP_115733.2:p.Met1Val
NR_104471.1:n.548+9A>G
XM_005263825.1:c.96+9A>G	XP_005263882.1:n.96+9A>G
XR_923045.1:n.686A>G
NM_001321118.1:c.96+9A>G	NP_001308047.1:n.96+9A>G
NR_135548.1:n.259A>G
NM_032357.4:c.1A>G MANE Select	NP_115733.2:p.Met1Val
NM_001321119.2:c.1A>G	NP_001308048.2:p.Met1Val
NR_135548.2:n.40A>G