Canonical Allele Identifier: CA8739849

Gene: COG1

Linked Data

• ClinVar Variation Id: 324951
• ClinVar RCV Id: RCV000310547 ; RCV001582967 ; RCV001711935
• dbSNP Id: rs3764359
• ExAC: 17:71189182 A / G
• gnomAD v2: 17-71189182-A-G
• gnomAD v3: 17-73193043-A-G
• gnomAD v4: 17-73193043-A-G
• MyVariant Identifiers: chr17:g.71189182A>G (hg19) ; chr17:g.73193043A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.73193043A>G , CM000679.2:g.73193043A>G	GRCh38
NC_000017.10:g.71189182A>G , CM000679.1:g.71189182A>G	GRCh37
NC_000017.9:g.68700777A>G	NCBI36
NG_008971.1:g.5010A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299886.8:c.-27A>G	ENSP00000299886.4:n.-27A>G
ENST00000618996.4:c.-27A>G	ENSP00000479450.1:n.-27A>G
NM_018714.2:c.-27A>G	NP_061184.1:n.-27A>G