Canonical Allele Identifier: CA8739932

Gene: COG1

Linked Data

• dbSNP Id: rs375481084
• ExAC: 17:71192618 T / C
• gnomAD v2: 17-71192618-T-C
• gnomAD v3: 17-73196479-T-C
• gnomAD v4: 17-73196479-T-C
• MyVariant Identifiers: chr17:g.71192618T>C (hg19) ; chr17:g.73196479T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.73196479T>C , CM000679.2:g.73196479T>C	GRCh38
NC_000017.10:g.71192618T>C , CM000679.1:g.71192618T>C	GRCh37
NC_000017.9:g.68704213T>C	NCBI36
NG_008971.1:g.8446T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299886.9:c.316-28T>C MANE Select	ENSP00000299886.4:n.316-28T>C
ENST00000299886.8:c.316-28T>C	ENSP00000299886.4:n.316-28T>C
ENST00000438720.7:c.314-28T>C
ENST00000582587.2:c.293-8T>C
ENST00000618996.4:c.316-28T>C	ENSP00000479450.1:n.316-28T>C
NM_018714.2:c.316-28T>C	NP_061184.1:n.316-28T>C
NM_018714.3:c.316-28T>C MANE Select	NP_061184.1:n.316-28T>C