Canonical Allele Identifier: CA7308897

Gene: CCDC88C

Linked Data

• ClinVar Variation Id: 807164
• ClinVar RCV Id: RCV000995235
• dbSNP Id: rs201391511
• ExAC: 14:91747827 A / G
• gnomAD v2: 14-91747827-A-G
• gnomAD v3: 14-91281483-A-G
• gnomAD v4: 14-91281483-A-G
• MyVariant Identifiers: chr14:g.91747827A>G (hg19) ; chr14:g.91281483A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91281483A>G , CM000676.2:g.91281483A>G	GRCh38
NC_000014.8:g.91747827A>G , CM000676.1:g.91747827A>G	GRCh37
NC_000014.7:g.90817580A>G	NCBI36
NG_033118.1:g.141362T>C
NG_033118.2:g.141362T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389857.11:c.4673T>C MANE Select	ENSP00000374507.6:p.Phe1558Ser
ENST00000331194.8:c.245T>C	ENSP00000330332.8:p.Phe82Ser
ENST00000334448.5:n.338T>C
ENST00000389857.10:c.4673T>C	ENSP00000374507.6:p.Phe1558Ser
ENST00000556726.5:c.901T>C
NM_001080414.3:c.4673T>C	NP_001073883.2:p.Phe1558Ser
XM_011536796.1:c.4565T>C	XP_011535098.1:p.Phe1522Ser
XR_429316.2:n.4801T>C
XR_943459.1:n.4801T>C
XM_011536796.2:c.4565T>C	XP_011535098.1:p.Phe1522Ser
XM_017021335.2:c.4673T>C	XP_016876824.1:p.Phe1558Ser
XM_017021336.1:c.1754T>C	XP_016876825.1:p.Phe585Ser
XR_429316.4:n.4799T>C
NM_001080414.4:c.4673T>C MANE Select	NP_001073883.2:p.Phe1558Ser