Canonical Allele Identifier: CA8739964
Gene: COG1 HGNC NCBI

Linked Data

dbSNP Id: rs756074791
ExAC: 17:71192775 C / T
gnomAD v2: 17-71192775-C-T
gnomAD v3: 17-73196636-C-T
gnomAD v4: 17-73196636-C-T
MyVariant Identifiers: chr17:g.71192775C>T (hg19) chr17:g.73196636C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.73196636C>T , CM000679.2:g.73196636C>T GRCh38
NC_000017.10:g.71192775C>T , CM000679.1:g.71192775C>T GRCh37
NC_000017.9:g.68704370C>T NCBI36
NG_008971.1:g.8603C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000299886.9:c.445C>T MANE Select ENSP00000299886.4:p.Leu149Phe
ENST00000299886.8:c.445C>T ENSP00000299886.4:p.Leu149Phe
ENST00000438720.7:c.443C>T
ENST00000582587.2:c.442C>T
ENST00000618996.4:c.445C>T ENSP00000479450.1:p.Leu149Phe
NM_018714.2:c.445C>T NP_061184.1:p.Leu149Phe
NM_018714.3:c.445C>T MANE Select NP_061184.1:p.Leu149Phe
Search 100 bp 5'
Search 100 bp 3'