Canonical Allele Identifier: CA7308686
Gene: CCDC88C HGNC NCBI

Linked Data

ClinVar Variation Id: 2977680
ClinVar RCV Id: RCV003834278
dbSNP Id: rs755596208
ExAC: 14:91739776 G / A
gnomAD v2: 14-91739776-G-A
gnomAD v4: 14-91273432-G-A
MyVariant Identifiers: chr14:g.91739776G>A (hg19) chr14:g.91273432G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.91273432G>A , CM000676.2:g.91273432G>A GRCh38
NC_000014.8:g.91739776G>A , CM000676.1:g.91739776G>A GRCh37
NC_000014.7:g.90809529G>A NCBI36
NG_033118.1:g.149413C>T
NG_033118.2:g.149413C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000389857.11:c.5280C>T MANE Select ENSP00000374507.6:p.Ala1760=
ENST00000331194.8:c.852C>T ENSP00000330332.8:p.Ala284=
ENST00000389857.10:c.5280C>T ENSP00000374507.6:p.Ala1760=
ENST00000556726.5:c.1508C>T
NM_001080414.3:c.5280C>T NP_001073883.2:p.Ala1760=
XM_011536796.1:c.5172C>T XP_011535098.1:p.Ala1724=
XM_011536796.2:c.5172C>T XP_011535098.1:p.Ala1724=
XM_017021336.1:c.2361C>T XP_016876825.1:p.Ala787=
NM_001080414.4:c.5280C>T MANE Select NP_001073883.2:p.Ala1760=
Search 100 bp 5'
Search 100 bp 3'