Canonical Allele Identifier: CA7309627

Gene: CCDC88C

Linked Data

• ClinVar Variation Id: 2202053
• ClinVar RCV Id: RCV002629879
• dbSNP Id: rs764128262
• ExAC: 14:91779633 G / A
• gnomAD v2: 14-91779633-G-A
• gnomAD v3: 14-91313289-G-A
• gnomAD v4: 14-91313289-G-A
• COSMIC: COSM5848687 ; COSM5848688
• MyVariant Identifiers: chr14:g.91779633G>A (hg19) ; chr14:g.91313289G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91313289G>A , CM000676.2:g.91313289G>A	GRCh38
NC_000014.8:g.91779633G>A , CM000676.1:g.91779633G>A	GRCh37
NC_000014.7:g.90849386G>A	NCBI36
NG_033118.1:g.109556C>T
NG_033118.2:g.109556C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389857.11:c.2527C>T MANE Select	ENSP00000374507.6:p.Arg843Trp
ENST00000389857.10:c.2527C>T	ENSP00000374507.6:p.Arg843Trp
NM_001080414.3:c.2527C>T	NP_001073883.2:p.Arg843Trp
XM_005267691.3:c.2527C>T	XP_005267748.1:p.Arg843Trp
XM_011536796.1:c.2419C>T	XP_011535098.1:p.Arg807Trp
XR_429316.2:n.2655C>T
XR_943459.1:n.2655C>T
XM_005267691.5:c.2527C>T	XP_005267748.1:p.Arg843Trp
XM_011536796.2:c.2419C>T	XP_011535098.1:p.Arg807Trp
XM_017021335.2:c.2527C>T	XP_016876824.1:p.Arg843Trp
XM_017021337.2:c.2527C>T	XP_016876826.1:p.Arg843Trp
XR_429316.4:n.2653C>T
NM_001080414.4:c.2527C>T MANE Select	NP_001073883.2:p.Arg843Trp