Canonical Allele Identifier: CA400879894
Gene: COG1 HGNC NCBI

Linked Data

gnomAD v4: 17-73193285-C-A
MyVariant Identifiers: chr17:g.71189424C>A (hg19) chr17:g.73193285C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.73193285C>A , CM000679.2:g.73193285C>A GRCh38
NC_000017.10:g.71189424C>A , CM000679.1:g.71189424C>A GRCh37
NC_000017.9:g.68701019C>A NCBI36
NG_008971.1:g.5252C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000299886.9:c.216C>A MANE Select ENSP00000299886.4:p.Cys72Ter
ENST00000299886.8:c.216C>A ENSP00000299886.4:p.Cys72Ter
ENST00000438720.7:c.214C>A
ENST00000582587.2:c.193C>A
ENST00000618996.4:c.216C>A ENSP00000479450.1:p.Cys72Ter
NM_018714.2:c.216C>A NP_061184.1:p.Cys72Ter
NM_018714.3:c.216C>A MANE Select NP_061184.1:p.Cys72Ter
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