Canonical Allele Identifier: CA2576374986
Gene: COG1 HGNC NCBI

Linked Data

gnomAD v4: 17-73196455-T-G
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.73196455T>G , CM000679.2:g.73196455T>G GRCh38
NC_000017.10:g.71192594T>G , CM000679.1:g.71192594T>G GRCh37
NC_000017.9:g.68704189T>G NCBI36
NG_008971.1:g.8422T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000299886.9:c.316-52T>G MANE Select ENSP00000299886.4:n.316-52T>G
ENST00000299886.8:c.316-52T>G ENSP00000299886.4:n.316-52T>G
ENST00000438720.7:c.314-52T>G
ENST00000582587.2:c.293-32T>G
ENST00000618996.4:c.316-52T>G ENSP00000479450.1:n.316-52T>G
NM_018714.2:c.316-52T>G NP_061184.1:n.316-52T>G
NM_018714.3:c.316-52T>G MANE Select NP_061184.1:n.316-52T>G
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