Canonical Allele Identifier: CA7310109
Community Standard Title: NM_001080414.4(CCDC88C):c.809+7C>T
Gene: CCDC88C HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.91339271G>A , CM000676.2:g.91339271G>A GRCh38
NC_000014.8:g.91805615G>A , CM000676.1:g.91805615G>A GRCh37
NC_000014.7:g.90875368G>A NCBI36
NG_033118.1:g.83574C>T
NG_033118.2:g.83574C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001080414.4:c.809+7C>T MANE Select NP_001073883.2:n.809+7C>T
ENST00000389857.11:c.809+7C>T MANE Select ENSP00000374507.6:n.809+7C>T
NM_001080414.3:c.809+7C>T NP_001073883.2:n.809+7C>T
ENST00000389857.10:c.809+7C>T ENSP00000374507.6:n.809+7C>T
ENST00000554872.5:n.756C>T
XM_005267691.3:c.809+7C>T XP_005267748.1:n.809+7C>T
XM_005267691.5:c.809+7C>T XP_005267748.1:n.809+7C>T
XM_011536796.1:c.701+7C>T XP_011535098.1:n.701+7C>T
XM_011536796.2:c.701+7C>T XP_011535098.1:n.701+7C>T
XM_017021335.2:c.809+7C>T XP_016876824.1:n.809+7C>T
XM_017021337.2:c.809+7C>T XP_016876826.1:n.809+7C>T
XR_429316.2:n.937+7C>T
XR_429316.4:n.935+7C>T
XR_943459.1:n.937+7C>T