Canonical Allele Identifier: CA709862837

Gene: CCDC88C

Linked Data

• ClinVar Variation Id: 2803831
• ClinVar RCV Id: RCV003681711
• dbSNP Id: rs1166079113
• gnomAD v3: 14-91273665-A-C
• gnomAD v4: 14-91273665-A-C
• MyVariant Identifiers: chr14:g.91740009A>C (hg19) ; chr14:g.91273665A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91273665A>C , CM000676.2:g.91273665A>C	GRCh38
NC_000014.8:g.91740009A>C , CM000676.1:g.91740009A>C	GRCh37
NC_000014.7:g.90809762A>C	NCBI36
NG_033118.1:g.149180T>G
NG_033118.2:g.149180T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389857.11:c.5059-12T>G MANE Select	ENSP00000374507.6:n.5059-12T>G
ENST00000331194.8:c.631-12T>G	ENSP00000330332.8:n.631-12T>G
ENST00000334448.5:n.871-12T>G
ENST00000389857.10:c.5059-12T>G	ENSP00000374507.6:n.5059-12T>G
ENST00000556726.5:c.1287-12T>G
NM_001080414.3:c.5059-12T>G	NP_001073883.2:n.5059-12T>G
XM_011536796.1:c.4951-12T>G	XP_011535098.1:n.4951-12T>G
XR_429316.2:n.5334-12T>G
XM_011536796.2:c.4951-12T>G	XP_011535098.1:n.4951-12T>G
XM_017021336.1:c.2140-12T>G	XP_016876825.1:n.2140-12T>G
XR_429316.4:n.5332-12T>G
NM_001080414.4:c.5059-12T>G MANE Select	NP_001073883.2:n.5059-12T>G