Canonical Allele Identifier: CA16605378
Gene: OCLN HGNC NCBI

Linked Data

ClinVar Variation Id: 378309
ClinVar RCV Id: RCV001703480
dbSNP Id: rs115253607
gnomAD v2: 5-68788469-C-T
gnomAD v3: 5-69492642-C-T
gnomAD v4: 5-69492642-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.69492642C>T , CM000667.2:g.69492642C>T GRCh38
NC_000005.9:g.68788469C>T , CM000667.1:g.68788469C>T GRCh37
NC_000005.8:g.68824225C>T NCBI36
NG_028291.1:g.5351C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000355237.6:c.-86C>T ENSP00000347379.2:n.-86C>T
NM_002538.3:c.-86C>T NP_002529.1:n.-86C>T
XM_017008914.2:c.-86C>T XP_016864403.1:n.-86C>T
NM_002538.4:c.-86C>T NP_002529.1:n.-86C>T