Canonical Allele Identifier: CA390630824
Gene: CCDC88C HGNC NCBI

Linked Data

ClinVar Variation Id: 2543708
ClinVar RCV Id: RCV003287377
dbSNP Id: rs955631018

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.91313586C>T , CM000676.2:g.91313586C>T GRCh38
NC_000014.8:g.91779930C>T , CM000676.1:g.91779930C>T GRCh37
NC_000014.7:g.90849683C>T NCBI36
NG_033118.1:g.109259G>A
NG_033118.2:g.109259G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000389857.11:c.2230G>A MANE Select ENSP00000374507.6:p.Val744Met
ENST00000389857.10:c.2230G>A ENSP00000374507.6:p.Val744Met
NM_001080414.3:c.2230G>A NP_001073883.2:p.Val744Met
XM_005267691.3:c.2230G>A XP_005267748.1:p.Val744Met
XM_011536796.1:c.2122G>A XP_011535098.1:p.Val708Met
XR_429316.2:n.2358G>A
XR_943459.1:n.2358G>A
XM_005267691.5:c.2230G>A XP_005267748.1:p.Val744Met
XM_011536796.2:c.2122G>A XP_011535098.1:p.Val708Met
XM_017021335.2:c.2230G>A XP_016876824.1:p.Val744Met
XM_017021337.2:c.2230G>A XP_016876826.1:p.Val744Met
XR_429316.4:n.2356G>A
NM_001080414.4:c.2230G>A MANE Select NP_001073883.2:p.Val744Met