Canonical Allele Identifier: CA986116684
Gene: COG1 HGNC NCBI

Linked Data

dbSNP Id: rs2061324837
gnomAD v3: 17-73196338-C-G
gnomAD v4: 17-73196338-C-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.73196338C>G , CM000679.2:g.73196338C>G GRCh38
NC_000017.10:g.71192477C>G , CM000679.1:g.71192477C>G GRCh37
NC_000017.9:g.68704072C>G NCBI36
NG_008971.1:g.8305C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000299886.9:c.316-169C>G MANE Select ENSP00000299886.4:n.316-169C>G
ENST00000299886.8:c.316-169C>G ENSP00000299886.4:n.316-169C>G
ENST00000438720.7:c.314-169C>G
ENST00000582587.2:c.293-149C>G
ENST00000618996.4:c.316-169C>G ENSP00000479450.1:n.316-169C>G
NM_018714.2:c.316-169C>G NP_061184.1:n.316-169C>G
NM_018714.3:c.316-169C>G MANE Select NP_061184.1:n.316-169C>G
Search 100 bp 5'
Search 100 bp 3'