Canonical Allele Identifier: CA400879942
Gene: COG1 HGNC NCBI

Linked Data

gnomAD v4: 17-73193289-G-A
MyVariant Identifiers: chr17:g.71189428G>A (hg19) chr17:g.73193289G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.73193289G>A , CM000679.2:g.73193289G>A GRCh38
NC_000017.10:g.71189428G>A , CM000679.1:g.71189428G>A GRCh37
NC_000017.9:g.68701023G>A NCBI36
NG_008971.1:g.5256G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000299886.9:c.220G>A MANE Select ENSP00000299886.4:p.Val74Met
ENST00000299886.8:c.220G>A ENSP00000299886.4:p.Val74Met
ENST00000438720.7:c.218G>A
ENST00000582587.2:c.197G>A
ENST00000618996.4:c.220G>A ENSP00000479450.1:p.Val74Met
NM_018714.2:c.220G>A NP_061184.1:p.Val74Met
NM_018714.3:c.220G>A MANE Select NP_061184.1:p.Val74Met
Search 100 bp 5'
Search 100 bp 3'