Canonical Allele Identifier: CA2626123476

Gene: CCDC88C

Linked Data

• gnomAD v4: 14-91273698-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91273698G>A , CM000676.2:g.91273698G>A	GRCh38
NC_000014.8:g.91740042G>A , CM000676.1:g.91740042G>A	GRCh37
NC_000014.7:g.90809795G>A	NCBI36
NG_033118.1:g.149147C>T
NG_033118.2:g.149147C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389857.11:c.5059-45C>T MANE Select	ENSP00000374507.6:n.5059-45C>T
ENST00000331194.8:c.631-45C>T	ENSP00000330332.8:n.631-45C>T
ENST00000334448.5:n.871-45C>T
ENST00000389857.10:c.5059-45C>T	ENSP00000374507.6:n.5059-45C>T
ENST00000556726.5:c.1287-45C>T
NM_001080414.3:c.5059-45C>T	NP_001073883.2:n.5059-45C>T
XM_011536796.1:c.4951-45C>T	XP_011535098.1:n.4951-45C>T
XR_429316.2:n.5334-45C>T
XM_011536796.2:c.4951-45C>T	XP_011535098.1:n.4951-45C>T
XM_017021336.1:c.2140-45C>T	XP_016876825.1:n.2140-45C>T
XR_429316.4:n.5332-45C>T
NM_001080414.4:c.5059-45C>T MANE Select	NP_001073883.2:n.5059-45C>T