Canonical Allele Identifier: CA265517765

Gene: CCDC88C

Linked Data

• dbSNP Id: rs769298655
• gnomAD v2: 14-91804629-C-T
• gnomAD v3: 14-91338285-C-T
• gnomAD v4: 14-91338285-C-T
• MyVariant Identifiers: chr14:g.91804629C>T (hg19) ; chr14:g.91338285C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91338285C>T , CM000676.2:g.91338285C>T	GRCh38
NC_000014.8:g.91804629C>T , CM000676.1:g.91804629C>T	GRCh37
NC_000014.7:g.90874382C>T	NCBI36
NG_033118.1:g.84560G>A
NG_033118.2:g.84560G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389857.11:c.892-122G>A MANE Select	ENSP00000374507.6:n.892-122G>A
ENST00000389857.10:c.892-122G>A	ENSP00000374507.6:n.892-122G>A
ENST00000554051.1:n.369-122G>A
NM_001080414.3:c.892-122G>A	NP_001073883.2:n.892-122G>A
XM_005267691.3:c.892-122G>A	XP_005267748.1:n.892-122G>A
XM_011536796.1:c.784-122G>A	XP_011535098.1:n.784-122G>A
XR_429316.2:n.1020-122G>A
XR_943459.1:n.1020-122G>A
XM_005267691.5:c.892-122G>A	XP_005267748.1:n.892-122G>A
XM_011536796.2:c.784-122G>A	XP_011535098.1:n.784-122G>A
XM_017021335.2:c.892-122G>A	XP_016876824.1:n.892-122G>A
XM_017021337.2:c.892-122G>A	XP_016876826.1:n.892-122G>A
XR_429316.4:n.1018-122G>A
NM_001080414.4:c.892-122G>A MANE Select	NP_001073883.2:n.892-122G>A