Canonical Allele Identifier: CA774876047
Gene: COG1 HGNC NCBI

Linked Data

dbSNP Id: rs1408942061
gnomAD v3: 17-73196328-A-C
gnomAD v4: 17-73196328-A-C
MyVariant Identifiers: chr17:g.71192467A>C (hg19) chr17:g.73196328A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.73196328A>C , CM000679.2:g.73196328A>C GRCh38
NC_000017.10:g.71192467A>C , CM000679.1:g.71192467A>C GRCh37
NC_000017.9:g.68704062A>C NCBI36
NG_008971.1:g.8295A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000299886.9:c.316-179A>C MANE Select ENSP00000299886.4:n.316-179A>C
ENST00000299886.8:c.316-179A>C ENSP00000299886.4:n.316-179A>C
ENST00000438720.7:c.314-179A>C
ENST00000582587.2:c.293-159A>C
ENST00000618996.4:c.316-179A>C ENSP00000479450.1:n.316-179A>C
NM_018714.2:c.316-179A>C NP_061184.1:n.316-179A>C
NM_018714.3:c.316-179A>C MANE Select NP_061184.1:n.316-179A>C
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