Canonical Allele Identifier: CA10640464
Gene: COG1 HGNC NCBI

Linked Data

ClinVar Variation Id: 324959
ClinVar RCV Id: RCV000282002
dbSNP Id: rs886053368

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.73193372G>A , CM000679.2:g.73193372G>A GRCh38
NC_000017.10:g.71189511G>A , CM000679.1:g.71189511G>A GRCh37
NC_000017.9:g.68701106G>A NCBI36
NG_008971.1:g.5339G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000299886.9:c.303G>A MANE Select ENSP00000299886.4:p.Pro101=
ENST00000299886.8:c.303G>A ENSP00000299886.4:p.Pro101=
ENST00000438720.7:c.301G>A
ENST00000582587.2:c.280G>A
ENST00000618996.4:c.303G>A ENSP00000479450.1:p.Pro101=
NM_018714.2:c.303G>A NP_061184.1:p.Pro101=
NM_018714.3:c.303G>A MANE Select NP_061184.1:p.Pro101=