Canonical Allele Identifier: CA487549057

Gene: CCDC88C

Linked Data

• ClinVar Variation Id: 2969672
• ClinVar RCV Id: RCV003821806
• dbSNP Id: rs1353879174
• MyVariant Identifiers: chr14:g.91772148C>T (hg19) ; chr14:g.91305804C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91305804C>T , CM000676.2:g.91305804C>T	GRCh38
NC_000014.8:g.91772148C>T , CM000676.1:g.91772148C>T	GRCh37
NC_000014.7:g.90841901C>T	NCBI36
NG_033118.1:g.117041G>A
NG_033118.2:g.117041G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389857.11:c.3318G>A MANE Select	ENSP00000374507.6:p.Glu1106=
ENST00000389857.10:c.3318G>A	ENSP00000374507.6:p.Glu1106=
NM_001080414.3:c.3318G>A	NP_001073883.2:p.Glu1106=
XM_005267691.3:c.3318G>A	XP_005267748.1:p.Glu1106=
XM_011536796.1:c.3210G>A	XP_011535098.1:p.Glu1070=
XR_429316.2:n.3446G>A
XR_943459.1:n.3446G>A
XM_005267691.5:c.3318G>A	XP_005267748.1:p.Glu1106=
XM_011536796.2:c.3210G>A	XP_011535098.1:p.Glu1070=
XM_017021335.2:c.3318G>A	XP_016876824.1:p.Glu1106=
XM_017021336.1:c.399G>A	XP_016876825.1:p.Glu133=
XR_429316.4:n.3444G>A
NM_001080414.4:c.3318G>A MANE Select	NP_001073883.2:p.Glu1106=