Canonical Allele Identifier: CA7308715

Gene: CCDC88C

Linked Data

• ClinVar Variation Id: 711611
• ClinVar RCV Id: RCV002487935
• dbSNP Id: rs7145583
• ExAC: 14:91739873 A / G
• gnomAD v2: 14-91739873-A-G
• gnomAD v3: 14-91273529-A-G
• gnomAD v4: 14-91273529-A-G
• MyVariant Identifiers: chr14:g.91739873A>G (hg19) ; chr14:g.91273529A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91273529A>G , CM000676.2:g.91273529A>G	GRCh38
NC_000014.8:g.91739873A>G , CM000676.1:g.91739873A>G	GRCh37
NC_000014.7:g.90809626A>G	NCBI36
NG_033118.1:g.149316T>C
NG_033118.2:g.149316T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000389857.11:c.5183T>C MANE Select	ENSP00000374507.6:p.Phe1728Ser
ENST00000331194.8:c.755T>C	ENSP00000330332.8:p.Phe252Ser
ENST00000334448.5:n.995T>C
ENST00000389857.10:c.5183T>C	ENSP00000374507.6:p.Phe1728Ser
ENST00000556726.5:c.1411T>C
NM_001080414.3:c.5183T>C	NP_001073883.2:p.Phe1728Ser
XM_011536796.1:c.5075T>C	XP_011535098.1:p.Phe1692Ser
XR_429316.2:n.5458T>C
XM_011536796.2:c.5075T>C	XP_011535098.1:p.Phe1692Ser
XM_017021336.1:c.2264T>C	XP_016876825.1:p.Phe755Ser
XR_429316.4:n.5456T>C
NM_001080414.4:c.5183T>C MANE Select	NP_001073883.2:p.Phe1728Ser