Canonical Allele Identifier: CA2274431873
Gene: COG1 HGNC NCBI

Linked Data

dbSNP Id: rs2061325021
gnomAD v4: 17-73196400-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.73196400T>C , CM000679.2:g.73196400T>C GRCh38
NC_000017.10:g.71192539T>C , CM000679.1:g.71192539T>C GRCh37
NC_000017.9:g.68704134T>C NCBI36
NG_008971.1:g.8367T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000299886.9:c.316-107T>C MANE Select ENSP00000299886.4:n.316-107T>C
ENST00000299886.8:c.316-107T>C ENSP00000299886.4:n.316-107T>C
ENST00000438720.7:c.314-107T>C
ENST00000582587.2:c.293-87T>C
ENST00000618996.4:c.316-107T>C ENSP00000479450.1:n.316-107T>C
NM_018714.2:c.316-107T>C NP_061184.1:n.316-107T>C
NM_018714.3:c.316-107T>C MANE Select NP_061184.1:n.316-107T>C
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