Canonical Allele Identifier: CA14410130
Gene: COG1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1231416
ClinVar RCV Id: RCV001610072
dbSNP Id: rs1052705
gnomAD v2: 17-71192468-C-T
gnomAD v3: 17-73196329-C-T
gnomAD v4: 17-73196329-C-T
MyVariant Identifiers: chr17:g.71192468C>T (hg19) chr17:g.73196329C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.73196329C>T , CM000679.2:g.73196329C>T GRCh38
NC_000017.10:g.71192468C>T , CM000679.1:g.71192468C>T GRCh37
NC_000017.9:g.68704063C>T NCBI36
NG_008971.1:g.8296C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000299886.9:c.316-178C>T MANE Select ENSP00000299886.4:n.316-178C>T
ENST00000299886.8:c.316-178C>T ENSP00000299886.4:n.316-178C>T
ENST00000438720.7:c.314-178C>T
ENST00000582587.2:c.293-158C>T
ENST00000618996.4:c.316-178C>T ENSP00000479450.1:n.316-178C>T
NM_018714.2:c.316-178C>T NP_061184.1:n.316-178C>T
NM_018714.3:c.316-178C>T MANE Select NP_061184.1:n.316-178C>T
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