Canonical Allele Identifier: CA400881048
Gene: COG1 HGNC NCBI

Linked Data

gnomAD v4: 17-73193385-G-A
MyVariant Identifiers: chr17:g.71189524G>A (hg19) chr17:g.73193385G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.73193385G>A , CM000679.2:g.73193385G>A GRCh38
NC_000017.10:g.71189524G>A , CM000679.1:g.71189524G>A GRCh37
NC_000017.9:g.68701119G>A NCBI36
NG_008971.1:g.5352G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000299886.9:c.315+1G>A MANE Select ENSP00000299886.4:n.315+1G>A
ENST00000299886.8:c.315+1G>A ENSP00000299886.4:n.315+1G>A
ENST00000438720.7:c.313+1G>A
ENST00000582587.2:c.292+1G>A
ENST00000618996.4:c.315+1G>A ENSP00000479450.1:n.315+1G>A
NM_018714.2:c.315+1G>A NP_061184.1:n.315+1G>A
NM_018714.3:c.315+1G>A MANE Select NP_061184.1:n.315+1G>A
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