Canonical Allele Identifier: CA293799140
Gene: COG1 HGNC NCBI

Linked Data

dbSNP Id: rs973889903
gnomAD v4: 17-73196425-C-G
MyVariant Identifiers: chr17:g.71192564C>G (hg19) chr17:g.73196425C>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.73196425C>G , CM000679.2:g.73196425C>G GRCh38
NC_000017.10:g.71192564C>G , CM000679.1:g.71192564C>G GRCh37
NC_000017.9:g.68704159C>G NCBI36
NG_008971.1:g.8392C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000299886.9:c.316-82C>G MANE Select ENSP00000299886.4:n.316-82C>G
ENST00000299886.8:c.316-82C>G ENSP00000299886.4:n.316-82C>G
ENST00000438720.7:c.314-82C>G
ENST00000582587.2:c.293-62C>G
ENST00000618996.4:c.316-82C>G ENSP00000479450.1:n.316-82C>G
NM_018714.2:c.316-82C>G NP_061184.1:n.316-82C>G
NM_018714.3:c.316-82C>G MANE Select NP_061184.1:n.316-82C>G
Search 100 bp 5'
Search 100 bp 3'