Canonical Allele Identifier: CA171559
Gene: CCDC88C HGNC NCBI
COSMIC:
COSM5791360 (not active)
COSM5791361 (not active)
MyVariant.info:
GRCh38 chr14:g.91338143G>A
GRCh37 chr14:g.91804487G>A
gnomAD v2:
14:91804487 G / A
gnomAD v3:
14:91338143 G / A
gnomAD v4:
chr14-91338143-G-A
Joint Max Group AF 0.00739084 (NFE)
Genomes Max Group AF 0.00671717 (NFE)
Exomes Max Group AF 0.00740351 (NFE)
ClinVar RCV:
RCV000145457
RCV000953001
ClinVar Variation:
158128
dbSNP:
61736349
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.91338143G>A , CM000676.2:g.91338143G>A GRCh38
NC_000014.8:g.91804487G>A , CM000676.1:g.91804487G>A GRCh37
NC_000014.7:g.90874240G>A NCBI36
NG_033118.1:g.84702C>T
NG_033118.2:g.84702C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000389857.11:c.912C>T MANE Select ENSP00000374507.6:p.Asp304=
ENST00000389857.10:c.912C>T ENSP00000374507.6:p.Asp304=
ENST00000554051.1:n.389C>T
NM_001080414.3:c.912C>T NP_001073883.2:p.Asp304=
XM_005267691.3:c.912C>T XP_005267748.1:p.Asp304=
XM_011536796.1:c.804C>T XP_011535098.1:p.Asp268=
XR_429316.2:n.1040C>T
XR_943459.1:n.1040C>T
XM_005267691.5:c.912C>T XP_005267748.1:p.Asp304=
XM_011536796.2:c.804C>T XP_011535098.1:p.Asp268=
XM_017021335.2:c.912C>T XP_016876824.1:p.Asp304=
XM_017021337.2:c.912C>T XP_016876826.1:p.Asp304=
XR_429316.4:n.1038C>T
NM_001080414.4:c.912C>T MANE Select NP_001073883.2:p.Asp304=
Search 100 bp 5'
Search 100 bp 3'