Canonical Allele Identifier: CA615727386

Gene: CCDC88C

Linked Data

• ClinVar Variation Id: 2799567
• ClinVar RCV Id: RCV003668605
• dbSNP Id: rs1388343870
• gnomAD v2: 14-91763639-C-G
• gnomAD v4: 14-91297295-C-G
• MyVariant Identifiers: chr14:g.91763639C>G (hg19) ; chr14:g.91297295C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91297295C>G , CM000676.2:g.91297295C>G	GRCh38
NC_000014.8:g.91763639C>G , CM000676.1:g.91763639C>G	GRCh37
NC_000014.7:g.90833392C>G	NCBI36
NG_033118.1:g.125550G>C
NG_033118.2:g.125550G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000389857.11:c.3966+10G>C MANE Select	ENSP00000374507.6:n.3966+10G>C
ENST00000389857.10:c.3966+10G>C	ENSP00000374507.6:n.3966+10G>C
NM_001080414.3:c.3966+10G>C	NP_001073883.2:n.3966+10G>C
XM_005267691.3:c.3966+10G>C	XP_005267748.1:n.3966+10G>C
XM_011536796.1:c.3858+10G>C	XP_011535098.1:n.3858+10G>C
XR_429316.2:n.4094+10G>C
XR_943459.1:n.4094+10G>C
XM_005267691.5:c.3966+10G>C	XP_005267748.1:n.3966+10G>C
XM_011536796.2:c.3858+10G>C	XP_011535098.1:n.3858+10G>C
XM_017021335.2:c.3966+10G>C	XP_016876824.1:n.3966+10G>C
XM_017021336.1:c.1047+10G>C	XP_016876825.1:n.1047+10G>C
XR_429316.4:n.4092+10G>C
NM_001080414.4:c.3966+10G>C MANE Select	NP_001073883.2:n.3966+10G>C