Canonical Allele Identifier: CA390623190
Gene: CCDC88C HGNC NCBI

Linked Data

ClinVar Variation Id: 2198097
ClinVar RCV Id: RCV002629125
dbSNP Id: rs1259227524

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.91305818C>T , CM000676.2:g.91305818C>T GRCh38
NC_000014.8:g.91772162C>T , CM000676.1:g.91772162C>T GRCh37
NC_000014.7:g.90841915C>T NCBI36
NG_033118.1:g.117027G>A
NG_033118.2:g.117027G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000389857.11:c.3304G>A MANE Select ENSP00000374507.6:p.Ala1102Thr
ENST00000389857.10:c.3304G>A ENSP00000374507.6:p.Ala1102Thr
NM_001080414.3:c.3304G>A NP_001073883.2:p.Ala1102Thr
XM_005267691.3:c.3304G>A XP_005267748.1:p.Ala1102Thr
XM_011536796.1:c.3196G>A XP_011535098.1:p.Ala1066Thr
XR_429316.2:n.3432G>A
XR_943459.1:n.3432G>A
XM_005267691.5:c.3304G>A XP_005267748.1:p.Ala1102Thr
XM_011536796.2:c.3196G>A XP_011535098.1:p.Ala1066Thr
XM_017021335.2:c.3304G>A XP_016876824.1:p.Ala1102Thr
XM_017021336.1:c.385G>A XP_016876825.1:p.Ala129Thr
XR_429316.4:n.3430G>A
NM_001080414.4:c.3304G>A MANE Select NP_001073883.2:p.Ala1102Thr