Canonical Allele Identifier: CA7308685
Gene: CCDC88C HGNC NCBI

Linked Data

ClinVar Variation Id: 930883
ClinVar RCV Id: RCV001196860
dbSNP Id: rs761288523
ExAC: 14:91739775 C / T
gnomAD v2: 14-91739775-C-T
gnomAD v3: 14-91273431-C-T
gnomAD v4: 14-91273431-C-T
MyVariant Identifiers: chr14:g.91739775C>T (hg19) chr14:g.91273431C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.91273431C>T , CM000676.2:g.91273431C>T GRCh38
NC_000014.8:g.91739775C>T , CM000676.1:g.91739775C>T GRCh37
NC_000014.7:g.90809528C>T NCBI36
NG_033118.1:g.149414G>A
NG_033118.2:g.149414G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000389857.11:c.5281G>A MANE Select ENSP00000374507.6:p.Glu1761Lys
ENST00000331194.8:c.853G>A ENSP00000330332.8:p.Glu285Lys
ENST00000389857.10:c.5281G>A ENSP00000374507.6:p.Glu1761Lys
ENST00000556726.5:c.1509G>A
NM_001080414.3:c.5281G>A NP_001073883.2:p.Glu1761Lys
XM_011536796.1:c.5173G>A XP_011535098.1:p.Glu1725Lys
XM_011536796.2:c.5173G>A XP_011535098.1:p.Glu1725Lys
XM_017021336.1:c.2362G>A XP_016876825.1:p.Glu788Lys
NM_001080414.4:c.5281G>A MANE Select NP_001073883.2:p.Glu1761Lys
Search 100 bp 5'
Search 100 bp 3'