Canonical Allele Identifier: CA8739985
Gene: COG1 HGNC NCBI

Linked Data

ClinVar Variation Id: 324962
ClinVar RCV Id: RCV002523004
dbSNP Id: rs534708439
ExAC: 17:71192872 C / T
gnomAD v2: 17-71192872-C-T
gnomAD v3: 17-73196733-C-T
gnomAD v4: 17-73196733-C-T
MyVariant Identifiers: chr17:g.71192872C>T (hg19) chr17:g.73196733C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.73196733C>T , CM000679.2:g.73196733C>T GRCh38
NC_000017.10:g.71192872C>T , CM000679.1:g.71192872C>T GRCh37
NC_000017.9:g.68704467C>T NCBI36
NG_008971.1:g.8700C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000299886.9:c.542C>T MANE Select ENSP00000299886.4:p.Ala181Val
ENST00000299886.8:c.542C>T ENSP00000299886.4:p.Ala181Val
ENST00000438720.7:c.540C>T
ENST00000582587.2:c.539C>T
ENST00000618996.4:c.542C>T ENSP00000479450.1:p.Ala181Val
NM_018714.2:c.542C>T NP_061184.1:p.Ala181Val
NM_018714.3:c.542C>T MANE Select NP_061184.1:p.Ala181Val
Search 100 bp 5'
Search 100 bp 3'