Canonical Allele Identifier: CA7308561
Gene: CCDC88C HGNC NCBI

Linked Data

ClinVar Variation Id: 2954958
ClinVar RCV Id: RCV003816157
dbSNP Id: rs375411867
ExAC: 14:91739149 C / T
gnomAD v2: 14-91739149-C-T
gnomAD v3: 14-91272805-C-T
gnomAD v4: 14-91272805-C-T
MyVariant Identifiers: chr14:g.91739149C>T (hg19) chr14:g.91272805C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.91272805C>T , CM000676.2:g.91272805C>T GRCh38
NC_000014.8:g.91739149C>T , CM000676.1:g.91739149C>T GRCh37
NC_000014.7:g.90808902C>T NCBI36
NG_033118.1:g.150040G>A
NG_033118.2:g.150040G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000389857.11:c.5907G>A MANE Select ENSP00000374507.6:p.Pro1969=
ENST00000331194.8:c.1341G>A ENSP00000330332.8:p.Pro447=
ENST00000389857.10:c.5907G>A ENSP00000374507.6:p.Pro1969=
ENST00000556726.5:c.2135G>A
NM_001080414.3:c.5907G>A NP_001073883.2:p.Pro1969=
XM_011536796.1:c.5799G>A XP_011535098.1:p.Pro1933=
XM_011536796.2:c.5799G>A XP_011535098.1:p.Pro1933=
XM_017021336.1:c.2988G>A XP_016876825.1:p.Pro996=
NM_001080414.4:c.5907G>A MANE Select NP_001073883.2:p.Pro1969=
Search 100 bp 5'
Search 100 bp 3'