Canonical Allele Identifier: CA7309705
Gene: CCDC88C HGNC NCBI

Linked Data

ClinVar Variation Id: 1298595
dbSNP Id: rs199967225

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.91313561T>C , CM000676.2:g.91313561T>C GRCh38
NC_000014.8:g.91779905T>C , CM000676.1:g.91779905T>C GRCh37
NC_000014.7:g.90849658T>C NCBI36
NG_033118.1:g.109284A>G
NG_033118.2:g.109284A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000389857.11:c.2255A>G MANE Select ENSP00000374507.6:p.Lys752Arg
ENST00000389857.10:c.2255A>G ENSP00000374507.6:p.Lys752Arg
NM_001080414.3:c.2255A>G NP_001073883.2:p.Lys752Arg
XM_005267691.3:c.2255A>G XP_005267748.1:p.Lys752Arg
XM_011536796.1:c.2147A>G XP_011535098.1:p.Lys716Arg
XR_429316.2:n.2383A>G
XR_943459.1:n.2383A>G
XM_005267691.5:c.2255A>G XP_005267748.1:p.Lys752Arg
XM_011536796.2:c.2147A>G XP_011535098.1:p.Lys716Arg
XM_017021335.2:c.2255A>G XP_016876824.1:p.Lys752Arg
XM_017021337.2:c.2255A>G XP_016876826.1:p.Lys752Arg
XR_429316.4:n.2381A>G
NM_001080414.4:c.2255A>G MANE Select NP_001073883.2:p.Lys752Arg