Canonical Allele Identifier: CA293797074
Gene: COG1 HGNC NCBI

Linked Data

dbSNP Id: rs1054929490
gnomAD v2: 17-71189420-G-A
gnomAD v4: 17-73193281-G-A
MyVariant Identifiers: chr17:g.71189420G>A (hg19) chr17:g.73193281G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.73193281G>A , CM000679.2:g.73193281G>A GRCh38
NC_000017.10:g.71189420G>A , CM000679.1:g.71189420G>A GRCh37
NC_000017.9:g.68701015G>A NCBI36
NG_008971.1:g.5248G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000299886.9:c.212G>A MANE Select ENSP00000299886.4:p.Arg71His
ENST00000299886.8:c.212G>A ENSP00000299886.4:p.Arg71His
ENST00000438720.7:c.210G>A
ENST00000582587.2:c.189G>A
ENST00000618996.4:c.212G>A ENSP00000479450.1:p.Arg71His
NM_018714.2:c.212G>A NP_061184.1:p.Arg71His
NM_018714.3:c.212G>A MANE Select NP_061184.1:p.Arg71His
Search 100 bp 5'
Search 100 bp 3'