Canonical Allele Identifier: CA487541110
Gene: CCDC88C HGNC NCBI

Linked Data

MyVariant Identifiers: chr14:g.91804355G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.91338011G>C , CM000676.2:g.91338011G>C GRCh38
NC_000014.8:g.91804355G>C , CM000676.1:g.91804355G>C GRCh37
NC_000014.7:g.90874108G>C NCBI36
NG_033118.1:g.84834C>G
NG_033118.2:g.84834C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000389857.11:c.1044C>G MANE Select ENSP00000374507.6:p.Arg348=
ENST00000389857.10:c.1044C>G ENSP00000374507.6:p.Arg348=
NM_001080414.3:c.1044C>G NP_001073883.2:p.Arg348=
XM_005267691.3:c.1044C>G XP_005267748.1:p.Arg348=
XM_011536796.1:c.936C>G XP_011535098.1:p.Arg312=
XR_429316.2:n.1172C>G
XR_943459.1:n.1172C>G
XM_005267691.5:c.1044C>G XP_005267748.1:p.Arg348=
XM_011536796.2:c.936C>G XP_011535098.1:p.Arg312=
XM_017021335.2:c.1044C>G XP_016876824.1:p.Arg348=
XM_017021337.2:c.1044C>G XP_016876826.1:p.Arg348=
XR_429316.4:n.1170C>G
NM_001080414.4:c.1044C>G MANE Select NP_001073883.2:p.Arg348=