Canonical Allele Identifier: CA8739989
Gene: COG1 HGNC NCBI

Linked Data

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

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

Transcript Alleles

HGVS Amino-acid change
ENST00000299886.9:c.547G>A MANE Select ENSP00000299886.4:p.Ala183Thr
ENST00000299886.8:c.547G>A ENSP00000299886.4:p.Ala183Thr
ENST00000438720.7:c.545G>A
ENST00000582587.2:c.544G>A
ENST00000618996.4:c.547G>A ENSP00000479450.1:p.Ala183Thr
NM_018714.2:c.547G>A NP_061184.1:p.Ala183Thr
NM_018714.3:c.547G>A MANE Select NP_061184.1:p.Ala183Thr
Search 100 bp 5'
Search 100 bp 3'