Canonical Allele Identifier: CA487829760
Gene: CCDC88C HGNC NCBI

Linked Data

MyVariant Identifiers: chr14:g.91779868C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.91313524C>A , CM000676.2:g.91313524C>A GRCh38
NC_000014.8:g.91779868C>A , CM000676.1:g.91779868C>A GRCh37
NC_000014.7:g.90849621C>A NCBI36
NG_033118.1:g.109321G>T
NG_033118.2:g.109321G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000389857.11:c.2292G>T MANE Select ENSP00000374507.6:p.Val764=
ENST00000389857.10:c.2292G>T ENSP00000374507.6:p.Val764=
NM_001080414.3:c.2292G>T NP_001073883.2:p.Val764=
XM_005267691.3:c.2292G>T XP_005267748.1:p.Val764=
XM_011536796.1:c.2184G>T XP_011535098.1:p.Val728=
XR_429316.2:n.2420G>T
XR_943459.1:n.2420G>T
XM_005267691.5:c.2292G>T XP_005267748.1:p.Val764=
XM_011536796.2:c.2184G>T XP_011535098.1:p.Val728=
XM_017021335.2:c.2292G>T XP_016876824.1:p.Val764=
XM_017021337.2:c.2292G>T XP_016876826.1:p.Val764=
XR_429316.4:n.2418G>T
NM_001080414.4:c.2292G>T MANE Select NP_001073883.2:p.Val764=