Canonical Allele Identifier: CA8739988
Gene: COG1 HGNC NCBI

Linked Data

dbSNP Id: rs201454609
ExAC: 17:71192877 G / C
gnomAD v2: 17-71192877-G-C
gnomAD v4: 17-73196738-G-C
MyVariant Identifiers: chr17:g.71192877G>C (hg19) chr17:g.73196738G>C (hg38)
PubMed: PMID:25363760
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.73196738G>C , CM000679.2:g.73196738G>C GRCh38
NC_000017.10:g.71192877G>C , CM000679.1:g.71192877G>C GRCh37
NC_000017.9:g.68704472G>C NCBI36
NG_008971.1:g.8705G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000299886.9:c.547G>C MANE Select ENSP00000299886.4:p.Ala183Pro
ENST00000299886.8:c.547G>C ENSP00000299886.4:p.Ala183Pro
ENST00000438720.7:c.545G>C
ENST00000582587.2:c.544G>C
ENST00000618996.4:c.547G>C ENSP00000479450.1:p.Ala183Pro
NM_018714.2:c.547G>C NP_061184.1:p.Ala183Pro
NM_018714.3:c.547G>C MANE Select NP_061184.1:p.Ala183Pro
Search 100 bp 5'
Search 100 bp 3'