Canonical Allele Identifier: CA2739279957

Gene: CCDC88C

Linked Data

• ClinVar Variation Id: 2833494
• ClinVar RCV Id: RCV003692011

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91305946G>A , CM000676.2:g.91305946G>A	GRCh38
NC_000014.8:g.91772290G>A , CM000676.1:g.91772290G>A	GRCh37
NC_000014.7:g.90842043G>A	NCBI36
NG_033118.1:g.116899C>T
NG_033118.2:g.116899C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389857.11:c.3196-20C>T MANE Select	ENSP00000374507.6:n.3196-20C>T
ENST00000389857.10:c.3196-20C>T	ENSP00000374507.6:n.3196-20C>T
NM_001080414.3:c.3196-20C>T	NP_001073883.2:n.3196-20C>T
XM_005267691.3:c.3196-20C>T	XP_005267748.1:n.3196-20C>T
XM_011536796.1:c.3088-20C>T	XP_011535098.1:n.3088-20C>T
XR_429316.2:n.3324-20C>T
XR_943459.1:n.3324-20C>T
XM_005267691.5:c.3196-20C>T	XP_005267748.1:n.3196-20C>T
XM_011536796.2:c.3088-20C>T	XP_011535098.1:n.3088-20C>T
XM_017021335.2:c.3196-20C>T	XP_016876824.1:n.3196-20C>T
XM_017021336.1:c.277-20C>T	XP_016876825.1:n.277-20C>T
XR_429316.4:n.3322-20C>T
NM_001080414.4:c.3196-20C>T MANE Select	NP_001073883.2:n.3196-20C>T