Canonical Allele Identifier: CA171514

Gene: CCDC88C

Linked Data

• ClinVar Variation Id: 158097
• ClinVar RCV Id: RCV000145426 ; RCV000969369 ; RCV003905256
• dbSNP Id: rs61743881
• ExAC: 14:91779704 T / C
• gnomAD v2: 14-91779704-T-C
• gnomAD v3: 14-91313360-T-C
• gnomAD v4: 14-91313360-T-C
• MyVariant Identifiers: chr14:g.91779704T>C (hg19) ; chr14:g.91313360T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91313360T>C , CM000676.2:g.91313360T>C	GRCh38
NC_000014.8:g.91779704T>C , CM000676.1:g.91779704T>C	GRCh37
NC_000014.7:g.90849457T>C	NCBI36
NG_033118.1:g.109485A>G
NG_033118.2:g.109485A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000389857.11:c.2456A>G MANE Select	ENSP00000374507.6:p.Asp819Gly
ENST00000389857.10:c.2456A>G	ENSP00000374507.6:p.Asp819Gly
NM_001080414.3:c.2456A>G	NP_001073883.2:p.Asp819Gly
XM_005267691.3:c.2456A>G	XP_005267748.1:p.Asp819Gly
XM_011536796.1:c.2348A>G	XP_011535098.1:p.Asp783Gly
XR_429316.2:n.2584A>G
XR_943459.1:n.2584A>G
XM_005267691.5:c.2456A>G	XP_005267748.1:p.Asp819Gly
XM_011536796.2:c.2348A>G	XP_011535098.1:p.Asp783Gly
XM_017021335.2:c.2456A>G	XP_016876824.1:p.Asp819Gly
XM_017021337.2:c.2456A>G	XP_016876826.1:p.Asp819Gly
XR_429316.4:n.2582A>G
NM_001080414.4:c.2456A>G MANE Select	NP_001073883.2:p.Asp819Gly