Canonical Allele Identifier: CA2626125340

Gene: CCDC88C

Linked Data

• ClinVar Variation Id: 2807078
• ClinVar RCV Id: RCV003682121
• gnomAD v4: 14-91279321-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91279321C>T , CM000676.2:g.91279321C>T	GRCh38
NC_000014.8:g.91745665C>T , CM000676.1:g.91745665C>T	GRCh37
NC_000014.7:g.90815418C>T	NCBI36
NG_033118.1:g.143524G>A
NG_033118.2:g.143524G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389857.11:c.4700-15G>A MANE Select	ENSP00000374507.6:n.4700-15G>A
ENST00000331194.8:c.272-15G>A	ENSP00000330332.8:n.272-15G>A
ENST00000334448.5:n.512-15G>A
ENST00000389857.10:c.4700-15G>A	ENSP00000374507.6:n.4700-15G>A
ENST00000556726.5:c.928-15G>A
ENST00000557455.1:n.657G>A
NM_001080414.3:c.4700-15G>A	NP_001073883.2:n.4700-15G>A
XM_011536796.1:c.4592-15G>A	XP_011535098.1:n.4592-15G>A
XR_429316.2:n.4975-15G>A
XM_011536796.2:c.4592-15G>A	XP_011535098.1:n.4592-15G>A
XM_017021336.1:c.1781-15G>A	XP_016876825.1:n.1781-15G>A
XR_429316.4:n.4973-15G>A
NM_001080414.4:c.4700-15G>A MANE Select	NP_001073883.2:n.4700-15G>A