Canonical Allele Identifier: CA8739907
Gene: COG1 HGNC NCBI

Linked Data

dbSNP Id: rs775363228
ExAC: 17:71189431 G / A
gnomAD v2: 17-71189431-G-A
gnomAD v4: 17-73193292-G-A
MyVariant Identifiers: chr17:g.71189431G>A (hg19) chr17:g.73193292G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.73193292G>A , CM000679.2:g.73193292G>A GRCh38
NC_000017.10:g.71189431G>A , CM000679.1:g.71189431G>A GRCh37
NC_000017.9:g.68701026G>A NCBI36
NG_008971.1:g.5259G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000299886.9:c.223G>A MANE Select ENSP00000299886.4:p.Gly75Arg
ENST00000299886.8:c.223G>A ENSP00000299886.4:p.Gly75Arg
ENST00000438720.7:c.221G>A
ENST00000582587.2:c.200G>A
ENST00000618996.4:c.223G>A ENSP00000479450.1:p.Gly75Arg
NM_018714.2:c.223G>A NP_061184.1:p.Gly75Arg
NM_018714.3:c.223G>A MANE Select NP_061184.1:p.Gly75Arg
Search 100 bp 5'
Search 100 bp 3'