Canonical Allele Identifier: CA19699053
Gene: SELENON HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.25813899G>A
GRCh37 chr1:g.26140390G>A
Revel Score:
ENST00000361547 (MANE Select) 0.867
ENST00000354177 0.867
ENST00000374315 0.867
gnomAD v2:
1:26140390 G / A
gnomAD v4:
chr1-25813899-G-A
Joint Max Group AF 0.00007259 (EAS)
Exomes Max Group AF 0.00008198 (EAS)
ClinVar RCV:
RCV000551007
ClinVar Variation:
461629
dbSNP:
779162837
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.25813899G>A , CM000663.2:g.25813899G>A GRCh38
NC_000001.10:g.26140390G>A , CM000663.1:g.26140390G>A GRCh37
NC_000001.9:g.26012977G>A NCBI36
NG_009930.1:g.18724G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000354177.9:c.1235G>A ENSP00000346109.5:p.Arg412Gln
ENST00000494537.2:c.1393G>A ENSP00000508308.1:p.Gly465Arg
ENST00000361547.7:c.1406G>A MANE Select ENSP00000355141.2:p.Arg469Gln
ENST00000354177.8:c.1304G>A ENSP00000346109.4:p.Arg435Gln
ENST00000361547.6:c.1406G>A ENSP00000355141.2:p.Arg469Gln
ENST00000374315.1:c.1304G>A ENSP00000363434.1:p.Arg435Gln
ENST00000494537.1:n.173G>A
ENST00000559265.1:n.255+2020G>A
ENST00000630065.2:c.-167G>A ENSP00000487549.1:n.-167G>A
NM_020451.2:c.1406G>A NP_065184.2:p.Arg469Gln
NM_206926.1:c.1304G>A NP_996809.1:p.Arg435Gln
NM_020451.3:c.1406G>A MANE Select NP_065184.2:p.Arg469Gln
NM_206926.2:c.1304G>A NP_996809.1:p.Arg435Gln
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