Canonical Allele Identifier: CA400879829
Gene: COG1 HGNC NCBI

Linked Data

gnomAD v4: 17-73193276-G-C
MyVariant Identifiers: chr17:g.71189415G>C (hg19) chr17:g.73193276G>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.73193276G>C , CM000679.2:g.73193276G>C GRCh38
NC_000017.10:g.71189415G>C , CM000679.1:g.71189415G>C GRCh37
NC_000017.9:g.68701010G>C NCBI36
NG_008971.1:g.5243G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000299886.9:c.207G>C MANE Select ENSP00000299886.4:p.Met69Ile
ENST00000299886.8:c.207G>C ENSP00000299886.4:p.Met69Ile
ENST00000438720.7:c.205G>C
ENST00000582587.2:c.184G>C
ENST00000618996.4:c.207G>C ENSP00000479450.1:p.Met69Ile
NM_018714.2:c.207G>C NP_061184.1:p.Met69Ile
NM_018714.3:c.207G>C MANE Select NP_061184.1:p.Met69Ile
Search 100 bp 5'
Search 100 bp 3'