Canonical Allele Identifier: CA2626131216

Gene: CCDC88C

Linked Data

• dbSNP Id: rs2139857625
• gnomAD v4: 14-91338278-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91338278T>C , CM000676.2:g.91338278T>C	GRCh38
NC_000014.8:g.91804622T>C , CM000676.1:g.91804622T>C	GRCh37
NC_000014.7:g.90874375T>C	NCBI36
NG_033118.1:g.84567A>G
NG_033118.2:g.84567A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389857.11:c.892-115A>G MANE Select	ENSP00000374507.6:n.892-115A>G
ENST00000389857.10:c.892-115A>G	ENSP00000374507.6:n.892-115A>G
ENST00000554051.1:n.369-115A>G
NM_001080414.3:c.892-115A>G	NP_001073883.2:n.892-115A>G
XM_005267691.3:c.892-115A>G	XP_005267748.1:n.892-115A>G
XM_011536796.1:c.784-115A>G	XP_011535098.1:n.784-115A>G
XR_429316.2:n.1020-115A>G
XR_943459.1:n.1020-115A>G
XM_005267691.5:c.892-115A>G	XP_005267748.1:n.892-115A>G
XM_011536796.2:c.784-115A>G	XP_011535098.1:n.784-115A>G
XM_017021335.2:c.892-115A>G	XP_016876824.1:n.892-115A>G
XM_017021337.2:c.892-115A>G	XP_016876826.1:n.892-115A>G
XR_429316.4:n.1018-115A>G
NM_001080414.4:c.892-115A>G MANE Select	NP_001073883.2:n.892-115A>G