Canonical Allele Identifier: CA7309727

Gene: CCDC88C

Linked Data

• ClinVar Variation Id: 724541
• ClinVar RCV Id: RCV000898471
• dbSNP Id: rs201609345
• ExAC: 14:91779979 C / T
• gnomAD v2: 14-91779979-C-T
• gnomAD v3: 14-91313635-C-T
• gnomAD v4: 14-91313635-C-T
• MyVariant Identifiers: chr14:g.91779979C>T (hg19) ; chr14:g.91313635C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91313635C>T , CM000676.2:g.91313635C>T	GRCh38
NC_000014.8:g.91779979C>T , CM000676.1:g.91779979C>T	GRCh37
NC_000014.7:g.90849732C>T	NCBI36
NG_033118.1:g.109210G>A
NG_033118.2:g.109210G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389857.11:c.2181G>A MANE Select	ENSP00000374507.6:p.Glu727=
ENST00000389857.10:c.2181G>A	ENSP00000374507.6:p.Glu727=
NM_001080414.3:c.2181G>A	NP_001073883.2:p.Glu727=
XM_005267691.3:c.2181G>A	XP_005267748.1:p.Glu727=
XM_011536796.1:c.2073G>A	XP_011535098.1:p.Glu691=
XR_429316.2:n.2309G>A
XR_943459.1:n.2309G>A
XM_005267691.5:c.2181G>A	XP_005267748.1:p.Glu727=
XM_011536796.2:c.2073G>A	XP_011535098.1:p.Glu691=
XM_017021335.2:c.2181G>A	XP_016876824.1:p.Glu727=
XM_017021337.2:c.2181G>A	XP_016876826.1:p.Glu727=
XR_429316.4:n.2307G>A
NM_001080414.4:c.2181G>A MANE Select	NP_001073883.2:p.Glu727=