Canonical Allele Identifier: CA390618277

Gene: CCDC88C

Linked Data

• dbSNP Id: rs1290225236
• gnomAD v2: 14-91763725-T-G
• gnomAD v3: 14-91297381-T-G
• gnomAD v4: 14-91297381-T-G
• MyVariant Identifiers: chr14:g.91763725T>G (hg19) ; chr14:g.91297381T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91297381T>G , CM000676.2:g.91297381T>G	GRCh38
NC_000014.8:g.91763725T>G , CM000676.1:g.91763725T>G	GRCh37
NC_000014.7:g.90833478T>G	NCBI36
NG_033118.1:g.125464A>C
NG_033118.2:g.125464A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000389857.11:c.3890A>C MANE Select	ENSP00000374507.6:p.Gln1297Pro
ENST00000389857.10:c.3890A>C	ENSP00000374507.6:p.Gln1297Pro
NM_001080414.3:c.3890A>C	NP_001073883.2:p.Gln1297Pro
XM_005267691.3:c.3890A>C	XP_005267748.1:p.Gln1297Pro
XM_011536796.1:c.3782A>C	XP_011535098.1:p.Gln1261Pro
XR_429316.2:n.4018A>C
XR_943459.1:n.4018A>C
XM_005267691.5:c.3890A>C	XP_005267748.1:p.Gln1297Pro
XM_011536796.2:c.3782A>C	XP_011535098.1:p.Gln1261Pro
XM_017021335.2:c.3890A>C	XP_016876824.1:p.Gln1297Pro
XM_017021336.1:c.971A>C	XP_016876825.1:p.Gln324Pro
XR_429316.4:n.4016A>C
NM_001080414.4:c.3890A>C MANE Select	NP_001073883.2:p.Gln1297Pro