Canonical Allele Identifier: CA8739965
Gene: COG1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2146689
ClinVar RCV Id: RCV003067256
dbSNP Id: rs369274946
ExAC: 17:71192778 T / A
gnomAD v2: 17-71192778-T-A
gnomAD v4: 17-73196639-T-A
MyVariant Identifiers: chr17:g.71192778T>A (hg19) chr17:g.73196639T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.73196639T>A , CM000679.2:g.73196639T>A GRCh38
NC_000017.10:g.71192778T>A , CM000679.1:g.71192778T>A GRCh37
NC_000017.9:g.68704373T>A NCBI36
NG_008971.1:g.8606T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000299886.9:c.448T>A MANE Select ENSP00000299886.4:p.Cys150Ser
ENST00000299886.8:c.448T>A ENSP00000299886.4:p.Cys150Ser
ENST00000438720.7:c.446T>A
ENST00000582587.2:c.445T>A
ENST00000618996.4:c.448T>A ENSP00000479450.1:p.Cys150Ser
NM_018714.2:c.448T>A NP_061184.1:p.Cys150Ser
NM_018714.3:c.448T>A MANE Select NP_061184.1:p.Cys150Ser
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Search 100 bp 3'