Canonical Allele Identifier: CA7309192
Gene: CCDC88C HGNC NCBI

Linked Data

ClinVar Variation Id: 376774
ClinVar RCV Id: RCV000442039
dbSNP Id: rs142539336

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.91297376G>A , CM000676.2:g.91297376G>A GRCh38
NC_000014.8:g.91763720G>A , CM000676.1:g.91763720G>A GRCh37
NC_000014.7:g.90833473G>A NCBI36
NG_033118.1:g.125469C>T
NG_033118.2:g.125469C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000389857.11:c.3895C>T MANE Select ENSP00000374507.6:p.Arg1299Cys
ENST00000389857.10:c.3895C>T ENSP00000374507.6:p.Arg1299Cys
NM_001080414.3:c.3895C>T NP_001073883.2:p.Arg1299Cys
XM_005267691.3:c.3895C>T XP_005267748.1:p.Arg1299Cys
XM_011536796.1:c.3787C>T XP_011535098.1:p.Arg1263Cys
XR_429316.2:n.4023C>T
XR_943459.1:n.4023C>T
XM_005267691.5:c.3895C>T XP_005267748.1:p.Arg1299Cys
XM_011536796.2:c.3787C>T XP_011535098.1:p.Arg1263Cys
XM_017021335.2:c.3895C>T XP_016876824.1:p.Arg1299Cys
XM_017021336.1:c.976C>T XP_016876825.1:p.Arg326Cys
XR_429316.4:n.4021C>T
NM_001080414.4:c.3895C>T MANE Select NP_001073883.2:p.Arg1299Cys