Canonical Allele Identifier: CA2154912583

Gene: CCDC88C

Linked Data

• dbSNP Id: rs1893122522
• gnomAD v4: 14-91337965-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91337965C>T , CM000676.2:g.91337965C>T	GRCh38
NC_000014.8:g.91804309C>T , CM000676.1:g.91804309C>T	GRCh37
NC_000014.7:g.90874062C>T	NCBI36
NG_033118.1:g.84880G>A
NG_033118.2:g.84880G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000389857.11:c.1050+40G>A MANE Select	ENSP00000374507.6:n.1050+40G>A
ENST00000389857.10:c.1050+40G>A	ENSP00000374507.6:n.1050+40G>A
NM_001080414.3:c.1050+40G>A	NP_001073883.2:n.1050+40G>A
XM_005267691.3:c.1050+40G>A	XP_005267748.1:n.1050+40G>A
XM_011536796.1:c.942+40G>A	XP_011535098.1:n.942+40G>A
XR_429316.2:n.1178+40G>A
XR_943459.1:n.1178+40G>A
XM_005267691.5:c.1050+40G>A	XP_005267748.1:n.1050+40G>A
XM_011536796.2:c.942+40G>A	XP_011535098.1:n.942+40G>A
XM_017021335.2:c.1050+40G>A	XP_016876824.1:n.1050+40G>A
XM_017021337.2:c.1050+40G>A	XP_016876826.1:n.1050+40G>A
XR_429316.4:n.1176+40G>A
NM_001080414.4:c.1050+40G>A MANE Select	NP_001073883.2:n.1050+40G>A