Canonical Allele Identifier: CA487550369

Gene: CCDC88C

Linked Data

• ClinVar Variation Id: 2997664
• ClinVar RCV Id: RCV003854263
• dbSNP Id: rs1194069644
• gnomAD v2: 14-91779493-C-T
• gnomAD v4: 14-91313149-C-T
• MyVariant Identifiers: chr14:g.91779493C>T (hg19) ; chr14:g.91313149C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91313149C>T , CM000676.2:g.91313149C>T	GRCh38
NC_000014.8:g.91779493C>T , CM000676.1:g.91779493C>T	GRCh37
NC_000014.7:g.90849246C>T	NCBI36
NG_033118.1:g.109696G>A
NG_033118.2:g.109696G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000389857.11:c.2667G>A MANE Select	ENSP00000374507.6:p.Leu889=
ENST00000389857.10:c.2667G>A	ENSP00000374507.6:p.Leu889=
NM_001080414.3:c.2667G>A	NP_001073883.2:p.Leu889=
XM_005267691.3:c.2667G>A	XP_005267748.1:p.Leu889=
XM_011536796.1:c.2559G>A	XP_011535098.1:p.Leu853=
XR_429316.2:n.2795G>A
XR_943459.1:n.2795G>A
XM_005267691.5:c.2667G>A	XP_005267748.1:p.Leu889=
XM_011536796.2:c.2559G>A	XP_011535098.1:p.Leu853=
XM_017021335.2:c.2667G>A	XP_016876824.1:p.Leu889=
XM_017021336.1:c.-125G>A	XP_016876825.1:n.-125G>A
XM_017021337.2:c.2667G>A	XP_016876826.1:p.Leu889=
XR_429316.4:n.2793G>A
NM_001080414.4:c.2667G>A MANE Select	NP_001073883.2:p.Leu889=