Canonical Allele Identifier: CA390610322

Gene: CCDC88C

Linked Data

• gnomAD v4: 14-91273436-T-C
• MyVariant Identifiers: chr14:g.91739780T>C (hg19) ; chr14:g.91273436T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91273436T>C , CM000676.2:g.91273436T>C	GRCh38
NC_000014.8:g.91739780T>C , CM000676.1:g.91739780T>C	GRCh37
NC_000014.7:g.90809533T>C	NCBI36
NG_033118.1:g.149409A>G
NG_033118.2:g.149409A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389857.11:c.5276A>G MANE Select	ENSP00000374507.6:p.Glu1759Gly
ENST00000331194.8:c.848A>G	ENSP00000330332.8:p.Glu283Gly
ENST00000389857.10:c.5276A>G	ENSP00000374507.6:p.Glu1759Gly
ENST00000556726.5:c.1504A>G
NM_001080414.3:c.5276A>G	NP_001073883.2:p.Glu1759Gly
XM_011536796.1:c.5168A>G	XP_011535098.1:p.Glu1723Gly
XM_011536796.2:c.5168A>G	XP_011535098.1:p.Glu1723Gly
XM_017021336.1:c.2357A>G	XP_016876825.1:p.Glu786Gly
NM_001080414.4:c.5276A>G MANE Select	NP_001073883.2:p.Glu1759Gly