Canonical Allele Identifier: CA8739924

Gene: COG1

Linked Data

• dbSNP Id: rs745563746
• ExAC: 17:71192581 G / T
• gnomAD v2: 17-71192581-G-T
• gnomAD v3: 17-73196442-G-T
• gnomAD v4: 17-73196442-G-T
• MyVariant Identifiers: chr17:g.71192581G>T (hg19) ; chr17:g.73196442G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.73196442G>T , CM000679.2:g.73196442G>T	GRCh38
NC_000017.10:g.71192581G>T , CM000679.1:g.71192581G>T	GRCh37
NC_000017.9:g.68704176G>T	NCBI36
NG_008971.1:g.8409G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299886.9:c.316-65G>T MANE Select	ENSP00000299886.4:n.316-65G>T
ENST00000299886.8:c.316-65G>T	ENSP00000299886.4:n.316-65G>T
ENST00000438720.7:c.314-65G>T
ENST00000582587.2:c.293-45G>T
ENST00000618996.4:c.316-65G>T	ENSP00000479450.1:n.316-65G>T
NM_018714.2:c.316-65G>T	NP_061184.1:n.316-65G>T
NM_018714.3:c.316-65G>T MANE Select	NP_061184.1:n.316-65G>T