Canonical Allele Identifier: CA293799098
Gene: COG1 HGNC NCBI

Linked Data

dbSNP Id: rs1015296616
gnomAD v2: 17-71192497-T-G
gnomAD v3: 17-73196358-T-G
gnomAD v4: 17-73196358-T-G
MyVariant Identifiers: chr17:g.71192497T>G (hg19) chr17:g.73196358T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.73196358T>G , CM000679.2:g.73196358T>G GRCh38
NC_000017.10:g.71192497T>G , CM000679.1:g.71192497T>G GRCh37
NC_000017.9:g.68704092T>G NCBI36
NG_008971.1:g.8325T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000299886.9:c.316-149T>G MANE Select ENSP00000299886.4:n.316-149T>G
ENST00000299886.8:c.316-149T>G ENSP00000299886.4:n.316-149T>G
ENST00000438720.7:c.314-149T>G
ENST00000582587.2:c.293-129T>G
ENST00000618996.4:c.316-149T>G ENSP00000479450.1:n.316-149T>G
NM_018714.2:c.316-149T>G NP_061184.1:n.316-149T>G
NM_018714.3:c.316-149T>G MANE Select NP_061184.1:n.316-149T>G
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