Canonical Allele Identifier: CA7309415

Gene: CCDC88C

Linked Data

• ClinVar Variation Id: 2788462
• ClinVar RCV Id: RCV003674074
• dbSNP Id: rs748133657
• ExAC: 14:91772280 C / T
• gnomAD v2: 14-91772280-C-T
• gnomAD v4: 14-91305936-C-T
• MyVariant Identifiers: chr14:g.91772280C>T (hg19) ; chr14:g.91305936C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91305936C>T , CM000676.2:g.91305936C>T	GRCh38
NC_000014.8:g.91772280C>T , CM000676.1:g.91772280C>T	GRCh37
NC_000014.7:g.90842033C>T	NCBI36
NG_033118.1:g.116909G>A
NG_033118.2:g.116909G>A

Transcript Alleles

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