Canonical Allele Identifier: CA253170
Gene: SELENON HGNC NCBI
COSMIC:
COSM5566146 (not active)
MyVariant.info:
GRCh38 chr1:g.25813890G>A
GRCh37 chr1:g.26140381G>A
Revel Score:
ENST00000361547 (MANE Select) 0.729
ENST00000354177 0.729
ENST00000374315 0.729
gnomAD v2:
1:26140381 G / A
gnomAD v3:
1:25813890 G / A
gnomAD v4:
chr1-25813890-G-A
Joint Max Group AF 0.00012666 (NFE)
Genomes Max Group AF 0.00003762 (NFE)
Exomes Max Group AF 0.00012978 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.25813890G>A , CM000663.2:g.25813890G>A GRCh38
NC_000001.10:g.26140381G>A , CM000663.1:g.26140381G>A GRCh37
NC_000001.9:g.26012968G>A NCBI36
NG_009930.1:g.18715G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000354177.9:c.1226G>A ENSP00000346109.5:p.Arg409Gln
ENST00000494537.2:c.1384G>A ENSP00000508308.1:p.Gly462Arg
ENST00000361547.7:c.1397G>A MANE Select ENSP00000355141.2:p.Arg466Gln
ENST00000354177.8:c.1295G>A ENSP00000346109.4:p.Arg432Gln
ENST00000361547.6:c.1397G>A ENSP00000355141.2:p.Arg466Gln
ENST00000374315.1:c.1295G>A ENSP00000363434.1:p.Arg432Gln
ENST00000494537.1:n.164G>A
ENST00000559265.1:n.255+2011G>A
ENST00000630065.2:c.-176G>A ENSP00000487549.1:n.-176G>A
NM_020451.2:c.1397G>A NP_065184.2:p.Arg466Gln
NM_206926.1:c.1295G>A NP_996809.1:p.Arg432Gln
NM_020451.3:c.1397G>A MANE Select NP_065184.2:p.Arg466Gln
NM_206926.2:c.1295G>A NP_996809.1:p.Arg432Gln
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Search 100 bp 3'