Canonical Allele Identifier: CA2154912733

Gene: CCDC88C

Linked Data

• dbSNP Id: rs1893143913
• gnomAD v4: 14-91338259-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91338259C>T , CM000676.2:g.91338259C>T	GRCh38
NC_000014.8:g.91804603C>T , CM000676.1:g.91804603C>T	GRCh37
NC_000014.7:g.90874356C>T	NCBI36
NG_033118.1:g.84586G>A
NG_033118.2:g.84586G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389857.11:c.892-96G>A MANE Select	ENSP00000374507.6:n.892-96G>A
ENST00000389857.10:c.892-96G>A	ENSP00000374507.6:n.892-96G>A
ENST00000554051.1:n.369-96G>A
NM_001080414.3:c.892-96G>A	NP_001073883.2:n.892-96G>A
XM_005267691.3:c.892-96G>A	XP_005267748.1:n.892-96G>A
XM_011536796.1:c.784-96G>A	XP_011535098.1:n.784-96G>A
XR_429316.2:n.1020-96G>A
XR_943459.1:n.1020-96G>A
XM_005267691.5:c.892-96G>A	XP_005267748.1:n.892-96G>A
XM_011536796.2:c.784-96G>A	XP_011535098.1:n.784-96G>A
XM_017021335.2:c.892-96G>A	XP_016876824.1:n.892-96G>A
XM_017021337.2:c.892-96G>A	XP_016876826.1:n.892-96G>A
XR_429316.4:n.1018-96G>A
NM_001080414.4:c.892-96G>A MANE Select	NP_001073883.2:n.892-96G>A