Canonical Allele Identifier: CA7308712

Gene: CCDC88C

Linked Data

• ClinVar Variation Id: 2644453
• ClinVar RCV Id: RCV003393555
• dbSNP Id: rs369187490
• ExAC: 14:91739859 C / T
• gnomAD v2: 14-91739859-C-T
• gnomAD v3: 14-91273515-C-T
• gnomAD v4: 14-91273515-C-T
• COSMIC: COSM958706 ; COSM958707 ; COSM958708
• MyVariant Identifiers: chr14:g.91739859C>T (hg19) ; chr14:g.91273515C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91273515C>T , CM000676.2:g.91273515C>T	GRCh38
NC_000014.8:g.91739859C>T , CM000676.1:g.91739859C>T	GRCh37
NC_000014.7:g.90809612C>T	NCBI36
NG_033118.1:g.149330G>A
NG_033118.2:g.149330G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389857.11:c.5197G>A MANE Select	ENSP00000374507.6:p.Val1733Ile
ENST00000331194.8:c.769G>A	ENSP00000330332.8:p.Val257Ile
ENST00000334448.5:n.1009G>A
ENST00000389857.10:c.5197G>A	ENSP00000374507.6:p.Val1733Ile
ENST00000556726.5:c.1425G>A
NM_001080414.3:c.5197G>A	NP_001073883.2:p.Val1733Ile
XM_011536796.1:c.5089G>A	XP_011535098.1:p.Val1697Ile
XR_429316.2:n.5472G>A
XM_011536796.2:c.5089G>A	XP_011535098.1:p.Val1697Ile
XM_017021336.1:c.2278G>A	XP_016876825.1:p.Val760Ile
XR_429316.4:n.5470G>A
NM_001080414.4:c.5197G>A MANE Select	NP_001073883.2:p.Val1733Ile