Canonical Allele Identifier: CA171548

Gene: CCDC88C

Linked Data

• ClinVar Variation Id: 158120
• ClinVar RCV Id: RCV000145449 ; RCV001554609 ; RCV001554610 ; RCV001668284
• dbSNP Id: rs3742654
• ExAC: 14:91883967 G / T
• gnomAD v2: 14-91883967-G-T
• gnomAD v3: 14-91417623-G-T
• gnomAD v4: 14-91417623-G-T
• MyVariant Identifiers: chr14:g.91883967G>T (hg19) ; chr14:g.91417623G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91417623G>T , CM000676.2:g.91417623G>T	GRCh38
NC_000014.8:g.91883967G>T , CM000676.1:g.91883967G>T	GRCh37
NC_000014.7:g.90953720G>T	NCBI36
NG_033118.1:g.5222C>A
NG_033118.2:g.5222C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389857.11:c.60+8C>A MANE Select	ENSP00000374507.6:n.60+8C>A
ENST00000389857.10:c.60+8C>A	ENSP00000374507.6:n.60+8C>A
ENST00000553403.1:c.60+8C>A	ENSP00000451392.1:n.60+8C>A
ENST00000554165.1:n.48+8C>A
NM_001080414.3:c.60+8C>A	NP_001073883.2:n.60+8C>A
XM_005267691.3:c.60+8C>A	XP_005267748.1:n.60+8C>A
XR_429316.2:n.188+8C>A
XR_943459.1:n.188+8C>A
XM_005267691.5:c.60+8C>A	XP_005267748.1:n.60+8C>A
XM_017021335.2:c.60+8C>A	XP_016876824.1:n.60+8C>A
XM_017021337.2:c.60+8C>A	XP_016876826.1:n.60+8C>A
XR_429316.4:n.186+8C>A
NM_001080414.4:c.60+8C>A MANE Select	NP_001073883.2:n.60+8C>A