Canonical Allele Identifier: CA390611719

Gene: CCDC88C

Linked Data

• ClinVar Variation Id: 2214680
• ClinVar RCV Id: RCV002672716
• dbSNP Id: rs1201659596
• gnomAD v2: 14-91804375-C-T
• gnomAD v4: 14-91338031-C-T
• COSMIC: COSM4052960 ; COSM4052961
• MyVariant Identifiers: chr14:g.91804375C>T (hg19) ; chr14:g.91338031C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91338031C>T , CM000676.2:g.91338031C>T	GRCh38
NC_000014.8:g.91804375C>T , CM000676.1:g.91804375C>T	GRCh37
NC_000014.7:g.90874128C>T	NCBI36
NG_033118.1:g.84814G>A
NG_033118.2:g.84814G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389857.11:c.1024G>A MANE Select	ENSP00000374507.6:p.Val342Met
ENST00000389857.10:c.1024G>A	ENSP00000374507.6:p.Val342Met
NM_001080414.3:c.1024G>A	NP_001073883.2:p.Val342Met
XM_005267691.3:c.1024G>A	XP_005267748.1:p.Val342Met
XM_011536796.1:c.916G>A	XP_011535098.1:p.Val306Met
XR_429316.2:n.1152G>A
XR_943459.1:n.1152G>A
XM_005267691.5:c.1024G>A	XP_005267748.1:p.Val342Met
XM_011536796.2:c.916G>A	XP_011535098.1:p.Val306Met
XM_017021335.2:c.1024G>A	XP_016876824.1:p.Val342Met
XM_017021337.2:c.1024G>A	XP_016876826.1:p.Val342Met
XR_429316.4:n.1150G>A
NM_001080414.4:c.1024G>A MANE Select	NP_001073883.2:p.Val342Met