Canonical Allele Identifier: CA709862899

Gene: CCDC88C

Linked Data

• dbSNP Id: rs1467810158
• gnomAD v3: 14-91273716-C-T
• gnomAD v4: 14-91273716-C-T
• MyVariant Identifiers: chr14:g.91740060C>T (hg19) ; chr14:g.91273716C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91273716C>T , CM000676.2:g.91273716C>T	GRCh38
NC_000014.8:g.91740060C>T , CM000676.1:g.91740060C>T	GRCh37
NC_000014.7:g.90809813C>T	NCBI36
NG_033118.1:g.149129G>A
NG_033118.2:g.149129G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389857.11:c.5059-63G>A MANE Select	ENSP00000374507.6:n.5059-63G>A
ENST00000331194.8:c.631-63G>A	ENSP00000330332.8:n.631-63G>A
ENST00000334448.5:n.871-63G>A
ENST00000389857.10:c.5059-63G>A	ENSP00000374507.6:n.5059-63G>A
ENST00000556726.5:c.1287-63G>A
NM_001080414.3:c.5059-63G>A	NP_001073883.2:n.5059-63G>A
XM_011536796.1:c.4951-63G>A	XP_011535098.1:n.4951-63G>A
XR_429316.2:n.5334-63G>A
XM_011536796.2:c.4951-63G>A	XP_011535098.1:n.4951-63G>A
XM_017021336.1:c.2140-63G>A	XP_016876825.1:n.2140-63G>A
XR_429316.4:n.5332-63G>A
NM_001080414.4:c.5059-63G>A MANE Select	NP_001073883.2:n.5059-63G>A