Canonical Allele Identifier: CA149041
Gene: COG1 HGNC NCBI

Linked Data

ClinVar Variation Id: 95919
ClinVar RCV Id: RCV000081968 RCV000289169 RCV000835499
dbSNP Id: rs11544800
ExAC: 17:71192873 A / G
gnomAD v2: 17-71192873-A-G
gnomAD v3: 17-73196734-A-G
gnomAD v4: 17-73196734-A-G
MyVariant Identifiers: chr17:g.71192873A>G (hg19) chr17:g.73196734A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.73196734A>G , CM000679.2:g.73196734A>G GRCh38
NC_000017.10:g.71192873A>G , CM000679.1:g.71192873A>G GRCh37
NC_000017.9:g.68704468A>G NCBI36
NG_008971.1:g.8701A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000299886.9:c.543A>G MANE Select ENSP00000299886.4:p.Ala181=
ENST00000299886.8:c.543A>G ENSP00000299886.4:p.Ala181=
ENST00000438720.7:c.541A>G
ENST00000582587.2:c.540A>G
ENST00000618996.4:c.543A>G ENSP00000479450.1:p.Ala181=
NM_018714.2:c.543A>G NP_061184.1:p.Ala181=
NM_018714.3:c.543A>G MANE Select NP_061184.1:p.Ala181=
Search 100 bp 5'
Search 100 bp 3'