Canonical Allele Identifier: CA502026253
Gene: COG1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1654309
ClinVar RCV Id: RCV002163865
dbSNP Id: rs1302286767
gnomAD v2: 17-71192879-C-T
gnomAD v4: 17-73196740-C-T
MyVariant Identifiers: chr17:g.71192879C>T (hg19) chr17:g.73196740C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.73196740C>T , CM000679.2:g.73196740C>T GRCh38
NC_000017.10:g.71192879C>T , CM000679.1:g.71192879C>T GRCh37
NC_000017.9:g.68704474C>T NCBI36
NG_008971.1:g.8707C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000299886.9:c.549C>T MANE Select ENSP00000299886.4:p.Ala183=
ENST00000299886.8:c.549C>T ENSP00000299886.4:p.Ala183=
ENST00000438720.7:c.547C>T
ENST00000582587.2:c.546C>T
ENST00000618996.4:c.549C>T ENSP00000479450.1:p.Ala183=
NM_018714.2:c.549C>T NP_061184.1:p.Ala183=
NM_018714.3:c.549C>T MANE Select NP_061184.1:p.Ala183=
Search 100 bp 5'
Search 100 bp 3'