Canonical Allele Identifier: CA7308555
Gene: CCDC88C HGNC NCBI

Linked Data

ClinVar Variation Id: 743124
ClinVar RCV Id: RCV000919450
dbSNP Id: rs200816634
ExAC: 14:91739122 C / T
gnomAD v2: 14-91739122-C-T
gnomAD v3: 14-91272778-C-T
gnomAD v4: 14-91272778-C-T
MyVariant Identifiers: chr14:g.91739122C>T (hg19) chr14:g.91272778C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.91272778C>T , CM000676.2:g.91272778C>T GRCh38
NC_000014.8:g.91739122C>T , CM000676.1:g.91739122C>T GRCh37
NC_000014.7:g.90808875C>T NCBI36
NG_033118.1:g.150067G>A
NG_033118.2:g.150067G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000389857.11:c.5934G>A MANE Select ENSP00000374507.6:p.Pro1978=
ENST00000331194.8:c.1368G>A ENSP00000330332.8:p.Pro456=
ENST00000389857.10:c.5934G>A ENSP00000374507.6:p.Pro1978=
ENST00000556726.5:c.2162G>A
NM_001080414.3:c.5934G>A NP_001073883.2:p.Pro1978=
XM_011536796.1:c.5826G>A XP_011535098.1:p.Pro1942=
XM_011536796.2:c.5826G>A XP_011535098.1:p.Pro1942=
XM_017021336.1:c.3015G>A XP_016876825.1:p.Pro1005=
NM_001080414.4:c.5934G>A MANE Select NP_001073883.2:p.Pro1978=
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