Canonical Allele Identifier: CA502026762
Gene: COG1 HGNC NCBI

Linked Data

dbSNP Id: rs1314384000
gnomAD v2: 17-71189430-G-A
gnomAD v4: 17-73193291-G-A
MyVariant Identifiers: chr17:g.71189430G>A (hg19) chr17:g.73193291G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.73193291G>A , CM000679.2:g.73193291G>A GRCh38
NC_000017.10:g.71189430G>A , CM000679.1:g.71189430G>A GRCh37
NC_000017.9:g.68701025G>A NCBI36
NG_008971.1:g.5258G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000299886.9:c.222G>A MANE Select ENSP00000299886.4:p.Val74=
ENST00000299886.8:c.222G>A ENSP00000299886.4:p.Val74=
ENST00000438720.7:c.220G>A
ENST00000582587.2:c.199G>A
ENST00000618996.4:c.222G>A ENSP00000479450.1:p.Val74=
NM_018714.2:c.222G>A NP_061184.1:p.Val74=
NM_018714.3:c.222G>A MANE Select NP_061184.1:p.Val74=
Search 100 bp 5'
Search 100 bp 3'