Canonical Allele Identifier: CA149037
Gene: COG1 HGNC NCBI

Linked Data

ClinVar Variation Id: 95917
ClinVar RCV Id: RCV000081966 RCV000386790 RCV000835498
dbSNP Id: rs1052706
ExAC: 17:71192663 G / A
gnomAD v2: 17-71192663-G-A
gnomAD v3: 17-73196524-G-A
gnomAD v4: 17-73196524-G-A
MyVariant Identifiers: chr17:g.71192663G>A (hg19) chr17:g.73196524G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.73196524G>A , CM000679.2:g.73196524G>A GRCh38
NC_000017.10:g.71192663G>A , CM000679.1:g.71192663G>A GRCh37
NC_000017.9:g.68704258G>A NCBI36
NG_008971.1:g.8491G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000299886.9:c.333G>A MANE Select ENSP00000299886.4:p.Gln111=
ENST00000299886.8:c.333G>A ENSP00000299886.4:p.Gln111=
ENST00000438720.7:c.331G>A
ENST00000582587.2:c.330G>A
ENST00000618996.4:c.333G>A ENSP00000479450.1:p.Gln111=
NM_018714.2:c.333G>A NP_061184.1:p.Gln111=
NM_018714.3:c.333G>A MANE Select NP_061184.1:p.Gln111=
Search 100 bp 5'
Search 100 bp 3'