Canonical Allele Identifier: CA7310059

Gene: CCDC88C

Linked Data

• ClinVar Variation Id: 786622
• ClinVar RCV Id: RCV001819085 ; RCV002503054
• dbSNP Id: rs11851173
• ExAC: 14:91804493 C / T
• gnomAD v2: 14-91804493-C-T
• gnomAD v3: 14-91338149-C-T
• gnomAD v4: 14-91338149-C-T
• MyVariant Identifiers: chr14:g.91804493C>T (hg19) ; chr14:g.91338149C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91338149C>T , CM000676.2:g.91338149C>T	GRCh38
NC_000014.8:g.91804493C>T , CM000676.1:g.91804493C>T	GRCh37
NC_000014.7:g.90874246C>T	NCBI36
NG_033118.1:g.84696G>A
NG_033118.2:g.84696G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000389857.11:c.906G>A MANE Select	ENSP00000374507.6:p.Ala302=
ENST00000389857.10:c.906G>A	ENSP00000374507.6:p.Ala302=
ENST00000554051.1:n.383G>A
NM_001080414.3:c.906G>A	NP_001073883.2:p.Ala302=
XM_005267691.3:c.906G>A	XP_005267748.1:p.Ala302=
XM_011536796.1:c.798G>A	XP_011535098.1:p.Ala266=
XR_429316.2:n.1034G>A
XR_943459.1:n.1034G>A
XM_005267691.5:c.906G>A	XP_005267748.1:p.Ala302=
XM_011536796.2:c.798G>A	XP_011535098.1:p.Ala266=
XM_017021335.2:c.906G>A	XP_016876824.1:p.Ala302=
XM_017021337.2:c.906G>A	XP_016876826.1:p.Ala302=
XR_429316.4:n.1032G>A
NM_001080414.4:c.906G>A MANE Select	NP_001073883.2:p.Ala302=