Canonical Allele Identifier: CA7308680
Gene: CCDC88C HGNC NCBI

Linked Data

ClinVar Variation Id: 791504
ClinVar RCV Id: RCV000974478 RCV004029982
dbSNP Id: rs201931182
ExAC: 14:91739760 C / T
gnomAD v2: 14-91739760-C-T
gnomAD v3: 14-91273416-C-T
gnomAD v4: 14-91273416-C-T
MyVariant Identifiers: chr14:g.91739760C>T (hg19) chr14:g.91273416C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.91273416C>T , CM000676.2:g.91273416C>T GRCh38
NC_000014.8:g.91739760C>T , CM000676.1:g.91739760C>T GRCh37
NC_000014.7:g.90809513C>T NCBI36
NG_033118.1:g.149429G>A
NG_033118.2:g.149429G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000389857.11:c.5296G>A MANE Select ENSP00000374507.6:p.Val1766Met
ENST00000331194.8:c.868G>A ENSP00000330332.8:p.Val290Met
ENST00000389857.10:c.5296G>A ENSP00000374507.6:p.Val1766Met
ENST00000556726.5:c.1524G>A
NM_001080414.3:c.5296G>A NP_001073883.2:p.Val1766Met
XM_011536796.1:c.5188G>A XP_011535098.1:p.Val1730Met
XM_011536796.2:c.5188G>A XP_011535098.1:p.Val1730Met
XM_017021336.1:c.2377G>A XP_016876825.1:p.Val793Met
NM_001080414.4:c.5296G>A MANE Select NP_001073883.2:p.Val1766Met
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