Canonical Allele Identifier: CA7308559

Gene: CCDC88C

Linked Data

• ClinVar Variation Id: 2068538
• ClinVar RCV Id: RCV002954315 ; RCV002974900
• dbSNP Id: rs777585873
• ExAC: 14:91739134 A / C
• gnomAD v2: 14-91739134-A-C
• gnomAD v3: 14-91272790-A-C
• gnomAD v4: 14-91272790-A-C
• COSMIC: COSM5776442 ; COSM5776443 ; COSM5776444
• MyVariant Identifiers: chr14:g.91739134A>C (hg19) ; chr14:g.91272790A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91272790A>C , CM000676.2:g.91272790A>C	GRCh38
NC_000014.8:g.91739134A>C , CM000676.1:g.91739134A>C	GRCh37
NC_000014.7:g.90808887A>C	NCBI36
NG_033118.1:g.150055T>G
NG_033118.2:g.150055T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389857.11:c.5922T>G MANE Select	ENSP00000374507.6:p.Ser1974Arg
ENST00000331194.8:c.1356T>G	ENSP00000330332.8:p.Ser452Arg
ENST00000389857.10:c.5922T>G	ENSP00000374507.6:p.Ser1974Arg
ENST00000556726.5:c.2150T>G
NM_001080414.3:c.5922T>G	NP_001073883.2:p.Ser1974Arg
XM_011536796.1:c.5814T>G	XP_011535098.1:p.Ser1938Arg
XM_011536796.2:c.5814T>G	XP_011535098.1:p.Ser1938Arg
XM_017021336.1:c.3003T>G	XP_016876825.1:p.Ser1001Arg
NM_001080414.4:c.5922T>G MANE Select	NP_001073883.2:p.Ser1974Arg