Canonical Allele Identifier: CA390610326

Gene: CCDC88C

Linked Data

• gnomAD v4: 14-91273437-C-A
• MyVariant Identifiers: chr14:g.91739781C>A (hg19) ; chr14:g.91273437C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91273437C>A , CM000676.2:g.91273437C>A	GRCh38
NC_000014.8:g.91739781C>A , CM000676.1:g.91739781C>A	GRCh37
NC_000014.7:g.90809534C>A	NCBI36
NG_033118.1:g.149408G>T
NG_033118.2:g.149408G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000389857.11:c.5275G>T MANE Select	ENSP00000374507.6:p.Glu1759Ter
ENST00000331194.8:c.847G>T	ENSP00000330332.8:p.Glu283Ter
ENST00000389857.10:c.5275G>T	ENSP00000374507.6:p.Glu1759Ter
ENST00000556726.5:c.1503G>T
NM_001080414.3:c.5275G>T	NP_001073883.2:p.Glu1759Ter
XM_011536796.1:c.5167G>T	XP_011535098.1:p.Glu1723Ter
XM_011536796.2:c.5167G>T	XP_011535098.1:p.Glu1723Ter
XM_017021336.1:c.2356G>T	XP_016876825.1:p.Glu786Ter
NM_001080414.4:c.5275G>T MANE Select	NP_001073883.2:p.Glu1759Ter