Canonical Allele Identifier: CA400879822
Gene: COG1 HGNC NCBI

Linked Data

dbSNP Id: rs1474293793
gnomAD v2: 17-71189414-T-C
gnomAD v4: 17-73193275-T-C
MyVariant Identifiers: chr17:g.71189414T>C (hg19) chr17:g.73193275T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.73193275T>C , CM000679.2:g.73193275T>C GRCh38
NC_000017.10:g.71189414T>C , CM000679.1:g.71189414T>C GRCh37
NC_000017.9:g.68701009T>C NCBI36
NG_008971.1:g.5242T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000299886.9:c.206T>C MANE Select ENSP00000299886.4:p.Met69Thr
ENST00000299886.8:c.206T>C ENSP00000299886.4:p.Met69Thr
ENST00000438720.7:c.204T>C
ENST00000582587.2:c.183T>C
ENST00000618996.4:c.206T>C ENSP00000479450.1:p.Met69Thr
NM_018714.2:c.206T>C NP_061184.1:p.Met69Thr
NM_018714.3:c.206T>C MANE Select NP_061184.1:p.Met69Thr
Search 100 bp 5'
Search 100 bp 3'