Canonical Allele Identifier: CA293799066
Gene: COG1 HGNC NCBI

Linked Data

dbSNP Id: rs543523588
gnomAD v2: 17-71192433-C-A
gnomAD v3: 17-73196294-C-A
gnomAD v4: 17-73196294-C-A
MyVariant Identifiers: chr17:g.71192433C>A (hg19) chr17:g.73196294C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.73196294C>A , CM000679.2:g.73196294C>A GRCh38
NC_000017.10:g.71192433C>A , CM000679.1:g.71192433C>A GRCh37
NC_000017.9:g.68704028C>A NCBI36
NG_008971.1:g.8261C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000299886.9:c.316-213C>A MANE Select ENSP00000299886.4:n.316-213C>A
ENST00000299886.8:c.316-213C>A ENSP00000299886.4:n.316-213C>A
ENST00000438720.7:c.314-213C>A
ENST00000582587.2:c.293-193C>A
ENST00000618996.4:c.316-213C>A ENSP00000479450.1:n.316-213C>A
NM_018714.2:c.316-213C>A NP_061184.1:n.316-213C>A
NM_018714.3:c.316-213C>A MANE Select NP_061184.1:n.316-213C>A
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