Canonical Allele Identifier: CA7309693
Gene: CCDC88C HGNC NCBI

Linked Data

ClinVar Variation Id: 2514159
ClinVar RCV Id: RCV003244923
dbSNP Id: rs555874748

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.91313508G>A , CM000676.2:g.91313508G>A GRCh38
NC_000014.8:g.91779852G>A , CM000676.1:g.91779852G>A GRCh37
NC_000014.7:g.90849605G>A NCBI36
NG_033118.1:g.109337C>T
NG_033118.2:g.109337C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000389857.11:c.2308C>T MANE Select ENSP00000374507.6:p.Arg770Trp
ENST00000389857.10:c.2308C>T ENSP00000374507.6:p.Arg770Trp
NM_001080414.3:c.2308C>T NP_001073883.2:p.Arg770Trp
XM_005267691.3:c.2308C>T XP_005267748.1:p.Arg770Trp
XM_011536796.1:c.2200C>T XP_011535098.1:p.Arg734Trp
XR_429316.2:n.2436C>T
XR_943459.1:n.2436C>T
XM_005267691.5:c.2308C>T XP_005267748.1:p.Arg770Trp
XM_011536796.2:c.2200C>T XP_011535098.1:p.Arg734Trp
XM_017021335.2:c.2308C>T XP_016876824.1:p.Arg770Trp
XM_017021337.2:c.2308C>T XP_016876826.1:p.Arg770Trp
XR_429316.4:n.2434C>T
NM_001080414.4:c.2308C>T MANE Select NP_001073883.2:p.Arg770Trp