Canonical Allele Identifier: CA293799544
Gene: COG1 HGNC NCBI

Linked Data

dbSNP Id: rs1051831282
gnomAD v4: 17-73196742-G-C
MyVariant Identifiers: chr17:g.71192881G>C (hg19) chr17:g.73196742G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.73196742G>C , CM000679.2:g.73196742G>C GRCh38
NC_000017.10:g.71192881G>C , CM000679.1:g.71192881G>C GRCh37
NC_000017.9:g.68704476G>C NCBI36
NG_008971.1:g.8709G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000299886.9:c.551G>C MANE Select ENSP00000299886.4:p.Ser184Thr
ENST00000299886.8:c.551G>C ENSP00000299886.4:p.Ser184Thr
ENST00000438720.7:c.549G>C
ENST00000582587.2:c.548G>C
ENST00000618996.4:c.551G>C ENSP00000479450.1:p.Ser184Thr
NM_018714.2:c.551G>C NP_061184.1:p.Ser184Thr
NM_018714.3:c.551G>C MANE Select NP_061184.1:p.Ser184Thr
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