Canonical Allele Identifier: CA7310034

Gene: CCDC88C

Linked Data

• ClinVar Variation Id: 2056711
• ClinVar RCV Id: RCV002922977
• dbSNP Id: rs200244690
• ExAC: 14:91804426 C / A
• gnomAD v2: 14-91804426-C-A
• gnomAD v3: 14-91338082-C-A
• gnomAD v4: 14-91338082-C-A
• MyVariant Identifiers: chr14:g.91804426C>A (hg19) ; chr14:g.91338082C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91338082C>A , CM000676.2:g.91338082C>A	GRCh38
NC_000014.8:g.91804426C>A , CM000676.1:g.91804426C>A	GRCh37
NC_000014.7:g.90874179C>A	NCBI36
NG_033118.1:g.84763G>T
NG_033118.2:g.84763G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389857.11:c.973G>T MANE Select	ENSP00000374507.6:p.Val325Leu
ENST00000389857.10:c.973G>T	ENSP00000374507.6:p.Val325Leu
ENST00000554051.1:n.450G>T
NM_001080414.3:c.973G>T	NP_001073883.2:p.Val325Leu
XM_005267691.3:c.973G>T	XP_005267748.1:p.Val325Leu
XM_011536796.1:c.865G>T	XP_011535098.1:p.Val289Leu
XR_429316.2:n.1101G>T
XR_943459.1:n.1101G>T
XM_005267691.5:c.973G>T	XP_005267748.1:p.Val325Leu
XM_011536796.2:c.865G>T	XP_011535098.1:p.Val289Leu
XM_017021335.2:c.973G>T	XP_016876824.1:p.Val325Leu
XM_017021337.2:c.973G>T	XP_016876826.1:p.Val325Leu
XR_429316.4:n.1099G>T
NM_001080414.4:c.973G>T MANE Select	NP_001073883.2:p.Val325Leu