Canonical Allele Identifier: CA400883344
Gene: COG1 HGNC NCBI

Linked Data

dbSNP Id: rs2061326164
gnomAD v4: 17-73196627-C-T
MyVariant Identifiers: chr17:g.71192766C>T (hg19) chr17:g.73196627C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.73196627C>T , CM000679.2:g.73196627C>T GRCh38
NC_000017.10:g.71192766C>T , CM000679.1:g.71192766C>T GRCh37
NC_000017.9:g.68704361C>T NCBI36
NG_008971.1:g.8594C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000299886.9:c.436C>T MANE Select ENSP00000299886.4:p.Leu146Phe
ENST00000299886.8:c.436C>T ENSP00000299886.4:p.Leu146Phe
ENST00000438720.7:c.434C>T
ENST00000582587.2:c.433C>T
ENST00000618996.4:c.436C>T ENSP00000479450.1:p.Leu146Phe
NM_018714.2:c.436C>T NP_061184.1:p.Leu146Phe
NM_018714.3:c.436C>T MANE Select NP_061184.1:p.Leu146Phe
Search 100 bp 5'
Search 100 bp 3'