Canonical Allele Identifier: CA8739933
Gene: COG1 HGNC NCBI

Linked Data

dbSNP Id: rs767892181
ExAC: 17:71192632 G / A
gnomAD v2: 17-71192632-G-A
MyVariant Identifiers: chr17:g.71192632G>A (hg19) chr17:g.73196493G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.73196493G>A , CM000679.2:g.73196493G>A GRCh38
NC_000017.10:g.71192632G>A , CM000679.1:g.71192632G>A GRCh37
NC_000017.9:g.68704227G>A NCBI36
NG_008971.1:g.8460G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000299886.9:c.316-14G>A MANE Select ENSP00000299886.4:n.316-14G>A
ENST00000299886.8:c.316-14G>A ENSP00000299886.4:n.316-14G>A
ENST00000438720.7:c.314-14G>A
ENST00000582587.2:c.299G>A
ENST00000618996.4:c.316-14G>A ENSP00000479450.1:n.316-14G>A
NM_018714.2:c.316-14G>A NP_061184.1:n.316-14G>A
NM_018714.3:c.316-14G>A MANE Select NP_061184.1:n.316-14G>A
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