Canonical Allele Identifier: CA986116639
Gene: COG1 HGNC NCBI

Linked Data

dbSNP Id: rs2061324483
gnomAD v3: 17-73196246-C-T
gnomAD v4: 17-73196246-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.73196246C>T , CM000679.2:g.73196246C>T GRCh38
NC_000017.10:g.71192385C>T , CM000679.1:g.71192385C>T GRCh37
NC_000017.9:g.68703980C>T NCBI36
NG_008971.1:g.8213C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000299886.9:c.316-261C>T MANE Select ENSP00000299886.4:n.316-261C>T
ENST00000299886.8:c.316-261C>T ENSP00000299886.4:n.316-261C>T
ENST00000438720.7:c.314-261C>T
ENST00000582587.2:c.293-241C>T
ENST00000618996.4:c.316-261C>T ENSP00000479450.1:n.316-261C>T
NM_018714.2:c.316-261C>T NP_061184.1:n.316-261C>T
NM_018714.3:c.316-261C>T MANE Select NP_061184.1:n.316-261C>T
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