Canonical Allele Identifier: CA487549023

Gene: CCDC88C

Linked Data

• ClinVar Variation Id: 2702075
• ClinVar RCV Id: RCV003577187
• dbSNP Id: rs1441428216
• gnomAD v3: 14-91305780-C-T
• gnomAD v4: 14-91305780-C-T
• MyVariant Identifiers: chr14:g.91772124C>T (hg19) ; chr14:g.91305780C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91305780C>T , CM000676.2:g.91305780C>T	GRCh38
NC_000014.8:g.91772124C>T , CM000676.1:g.91772124C>T	GRCh37
NC_000014.7:g.90841877C>T	NCBI36
NG_033118.1:g.117065G>A
NG_033118.2:g.117065G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389857.11:c.3342G>A MANE Select	ENSP00000374507.6:p.Gln1114=
ENST00000389857.10:c.3342G>A	ENSP00000374507.6:p.Gln1114=
NM_001080414.3:c.3342G>A	NP_001073883.2:p.Gln1114=
XM_005267691.3:c.3342G>A	XP_005267748.1:p.Gln1114=
XM_011536796.1:c.3234G>A	XP_011535098.1:p.Gln1078=
XR_429316.2:n.3470G>A
XR_943459.1:n.3470G>A
XM_005267691.5:c.3342G>A	XP_005267748.1:p.Gln1114=
XM_011536796.2:c.3234G>A	XP_011535098.1:p.Gln1078=
XM_017021335.2:c.3342G>A	XP_016876824.1:p.Gln1114=
XM_017021336.1:c.423G>A	XP_016876825.1:p.Gln141=
XR_429316.4:n.3468G>A
NM_001080414.4:c.3342G>A MANE Select	NP_001073883.2:p.Gln1114=