Canonical Allele Identifier: CA390611775

Gene: CCDC88C

Linked Data

• gnomAD v4: 14-91338057-G-A
• MyVariant Identifiers: chr14:g.91804401G>A (hg19) ; chr14:g.91338057G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91338057G>A , CM000676.2:g.91338057G>A	GRCh38
NC_000014.8:g.91804401G>A , CM000676.1:g.91804401G>A	GRCh37
NC_000014.7:g.90874154G>A	NCBI36
NG_033118.1:g.84788C>T
NG_033118.2:g.84788C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000389857.11:c.998C>T MANE Select	ENSP00000374507.6:p.Thr333Ile
ENST00000389857.10:c.998C>T	ENSP00000374507.6:p.Thr333Ile
ENST00000554051.1:n.475C>T
NM_001080414.3:c.998C>T	NP_001073883.2:p.Thr333Ile
XM_005267691.3:c.998C>T	XP_005267748.1:p.Thr333Ile
XM_011536796.1:c.890C>T	XP_011535098.1:p.Thr297Ile
XR_429316.2:n.1126C>T
XR_943459.1:n.1126C>T
XM_005267691.5:c.998C>T	XP_005267748.1:p.Thr333Ile
XM_011536796.2:c.890C>T	XP_011535098.1:p.Thr297Ile
XM_017021335.2:c.998C>T	XP_016876824.1:p.Thr333Ile
XM_017021337.2:c.998C>T	XP_016876826.1:p.Thr333Ile
XR_429316.4:n.1124C>T
NM_001080414.4:c.998C>T MANE Select	NP_001073883.2:p.Thr333Ile