Canonical Allele Identifier: CA2626125336

Gene: CCDC88C

Linked Data

• ClinVar Variation Id: 2851488
• ClinVar RCV Id: RCV003691176
• gnomAD v4: 14-91279319-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91279319G>A , CM000676.2:g.91279319G>A	GRCh38
NC_000014.8:g.91745663G>A , CM000676.1:g.91745663G>A	GRCh37
NC_000014.7:g.90815416G>A	NCBI36
NG_033118.1:g.143526C>T
NG_033118.2:g.143526C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389857.11:c.4700-13C>T MANE Select	ENSP00000374507.6:n.4700-13C>T
ENST00000331194.8:c.272-13C>T	ENSP00000330332.8:n.272-13C>T
ENST00000334448.5:n.512-13C>T
ENST00000389857.10:c.4700-13C>T	ENSP00000374507.6:n.4700-13C>T
ENST00000556726.5:c.928-13C>T
ENST00000557455.1:n.659C>T
NM_001080414.3:c.4700-13C>T	NP_001073883.2:n.4700-13C>T
XM_011536796.1:c.4592-13C>T	XP_011535098.1:n.4592-13C>T
XR_429316.2:n.4975-13C>T
XM_011536796.2:c.4592-13C>T	XP_011535098.1:n.4592-13C>T
XM_017021336.1:c.1781-13C>T	XP_016876825.1:n.1781-13C>T
XR_429316.4:n.4973-13C>T
NM_001080414.4:c.4700-13C>T MANE Select	NP_001073883.2:n.4700-13C>T