Canonical Allele Identifier: CA19698565
Gene: SELENON HGNC NCBI
COSMIC:
COSM907529
MyVariant.info:
GRCh38 chr1:g.25809693G>A
GRCh37 chr1:g.26136184G>A
Revel Score:
ENST00000361547 (MANE Select) 0.783
ENST00000354177 0.783
ENST00000374315 0.783
gnomAD v3:
1:25809693 G / A
gnomAD v4:
chr1-25809693-G-A
Joint Max Group AF 0.00001063 (AFR)
Exomes Max Group AF 0.00000989 (AFR)
ClinVar RCV:
RCV000592718
RCV001867977
ClinVar Variation:
501497
dbSNP:
978886878
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.25809693G>A , CM000663.2:g.25809693G>A GRCh38
NC_000001.10:g.26136184G>A , CM000663.1:g.26136184G>A GRCh37
NC_000001.9:g.26008771G>A NCBI36
NG_009930.1:g.14518G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000354177.9:c.712G>A ENSP00000346109.5:p.Glu238Lys
ENST00000494537.2:c.781G>A ENSP00000508308.1:p.Glu261Lys
ENST00000361547.7:c.883G>A MANE Select ENSP00000355141.2:p.Glu295Lys
ENST00000354177.8:c.781G>A ENSP00000346109.4:p.Glu261Lys
ENST00000361547.6:c.883G>A ENSP00000355141.2:p.Glu295Lys
ENST00000374315.1:c.781G>A ENSP00000363434.1:p.Glu261Lys
NM_020451.2:c.883G>A NP_065184.2:p.Glu295Lys
NM_206926.1:c.781G>A NP_996809.1:p.Glu261Lys
NM_020451.3:c.883G>A MANE Select NP_065184.2:p.Glu295Lys
NM_206926.2:c.781G>A NP_996809.1:p.Glu261Lys
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