Canonical Allele Identifier: CA390611752

Gene: CCDC88C

Linked Data

• gnomAD v4: 14-91338046-C-A
• MyVariant Identifiers: chr14:g.91804390C>A (hg19) ; chr14:g.91338046C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91338046C>A , CM000676.2:g.91338046C>A	GRCh38
NC_000014.8:g.91804390C>A , CM000676.1:g.91804390C>A	GRCh37
NC_000014.7:g.90874143C>A	NCBI36
NG_033118.1:g.84799G>T
NG_033118.2:g.84799G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000389857.11:c.1009G>T MANE Select	ENSP00000374507.6:p.Glu337Ter
ENST00000389857.10:c.1009G>T	ENSP00000374507.6:p.Glu337Ter
NM_001080414.3:c.1009G>T	NP_001073883.2:p.Glu337Ter
XM_005267691.3:c.1009G>T	XP_005267748.1:p.Glu337Ter
XM_011536796.1:c.901G>T	XP_011535098.1:p.Glu301Ter
XR_429316.2:n.1137G>T
XR_943459.1:n.1137G>T
XM_005267691.5:c.1009G>T	XP_005267748.1:p.Glu337Ter
XM_011536796.2:c.901G>T	XP_011535098.1:p.Glu301Ter
XM_017021335.2:c.1009G>T	XP_016876824.1:p.Glu337Ter
XM_017021337.2:c.1009G>T	XP_016876826.1:p.Glu337Ter
XR_429316.4:n.1135G>T
NM_001080414.4:c.1009G>T MANE Select	NP_001073883.2:p.Glu337Ter