Canonical Allele Identifier: CA2639622880
Gene: COG1 HGNC NCBI

Linked Data

gnomAD v4: 17-73196342-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.73196342G>T , CM000679.2:g.73196342G>T GRCh38
NC_000017.10:g.71192481G>T , CM000679.1:g.71192481G>T GRCh37
NC_000017.9:g.68704076G>T NCBI36
NG_008971.1:g.8309G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000299886.9:c.316-165G>T MANE Select ENSP00000299886.4:n.316-165G>T
ENST00000299886.8:c.316-165G>T ENSP00000299886.4:n.316-165G>T
ENST00000438720.7:c.314-165G>T
ENST00000582587.2:c.293-145G>T
ENST00000618996.4:c.316-165G>T ENSP00000479450.1:n.316-165G>T
NM_018714.2:c.316-165G>T NP_061184.1:n.316-165G>T
NM_018714.3:c.316-165G>T MANE Select NP_061184.1:n.316-165G>T
Search 100 bp 5'
Search 100 bp 3'