Canonical Allele Identifier: CA265570002
Gene: CCDC88C HGNC NCBI

Linked Data

ClinVar Variation Id: 2956534
ClinVar RCV Id: RCV003816245
dbSNP Id: rs1034688035

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.91313539G>C , CM000676.2:g.91313539G>C GRCh38
NC_000014.8:g.91779883G>C , CM000676.1:g.91779883G>C GRCh37
NC_000014.7:g.90849636G>C NCBI36
NG_033118.1:g.109306C>G
NG_033118.2:g.109306C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000389857.11:c.2277C>G MANE Select ENSP00000374507.6:p.Leu759=
ENST00000389857.10:c.2277C>G ENSP00000374507.6:p.Leu759=
NM_001080414.3:c.2277C>G NP_001073883.2:p.Leu759=
XM_005267691.3:c.2277C>G XP_005267748.1:p.Leu759=
XM_011536796.1:c.2169C>G XP_011535098.1:p.Leu723=
XR_429316.2:n.2405C>G
XR_943459.1:n.2405C>G
XM_005267691.5:c.2277C>G XP_005267748.1:p.Leu759=
XM_011536796.2:c.2169C>G XP_011535098.1:p.Leu723=
XM_017021335.2:c.2277C>G XP_016876824.1:p.Leu759=
XM_017021337.2:c.2277C>G XP_016876826.1:p.Leu759=
XR_429316.4:n.2403C>G
NM_001080414.4:c.2277C>G MANE Select NP_001073883.2:p.Leu759=