Canonical Allele Identifier: CA390629944

Gene: CCDC88C

Linked Data

• gnomAD v4: 14-91313328-G-T
• MyVariant Identifiers: chr14:g.91779672G>T (hg19) ; chr14:g.91313328G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91313328G>T , CM000676.2:g.91313328G>T	GRCh38
NC_000014.8:g.91779672G>T , CM000676.1:g.91779672G>T	GRCh37
NC_000014.7:g.90849425G>T	NCBI36
NG_033118.1:g.109517C>A
NG_033118.2:g.109517C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389857.11:c.2488C>A MANE Select	ENSP00000374507.6:p.Leu830Ile
ENST00000389857.10:c.2488C>A	ENSP00000374507.6:p.Leu830Ile
NM_001080414.3:c.2488C>A	NP_001073883.2:p.Leu830Ile
XM_005267691.3:c.2488C>A	XP_005267748.1:p.Leu830Ile
XM_011536796.1:c.2380C>A	XP_011535098.1:p.Leu794Ile
XR_429316.2:n.2616C>A
XR_943459.1:n.2616C>A
XM_005267691.5:c.2488C>A	XP_005267748.1:p.Leu830Ile
XM_011536796.2:c.2380C>A	XP_011535098.1:p.Leu794Ile
XM_017021335.2:c.2488C>A	XP_016876824.1:p.Leu830Ile
XM_017021337.2:c.2488C>A	XP_016876826.1:p.Leu830Ile
XR_429316.4:n.2614C>A
NM_001080414.4:c.2488C>A MANE Select	NP_001073883.2:p.Leu830Ile