Canonical Allele Identifier: CA253171
Gene: SELENON HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.25812763G>C
GRCh37 chr1:g.26139254G>C
Revel Score:
ENST00000361547 (MANE Select) 0.943
ENST00000354177 0.943
ENST00000374315 0.943
gnomAD v2:
1:26139254 G / C
gnomAD v3:
1:25812763 G / C
gnomAD v4:
chr1-25812763-G-C
Joint Max Group AF 0.00000763 (NFE)
Exomes Max Group AF 0.00000731 (NFE)
ClinVar RCV:
RCV000004750
ClinVar Variation:
4493
dbSNP:
121908186
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.25812763G>C , CM000663.2:g.25812763G>C GRCh38
NC_000001.10:g.26139254G>C , CM000663.1:g.26139254G>C GRCh37
NC_000001.9:g.26011841G>C NCBI36
NG_009930.1:g.17588G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000354177.9:c.1187G>C ENSP00000346109.5:p.Trp396Ser
ENST00000494537.2:c.1256G>C ENSP00000508308.1:p.Trp419Ser
ENST00000361547.7:c.1358G>C MANE Select ENSP00000355141.2:p.Trp453Ser
ENST00000354177.8:c.1256G>C ENSP00000346109.4:p.Trp419Ser
ENST00000361547.6:c.1358G>C ENSP00000355141.2:p.Trp453Ser
ENST00000374315.1:c.1256G>C ENSP00000363434.1:p.Trp419Ser
ENST00000494537.1:n.36G>C
ENST00000559265.1:n.255+884G>C
ENST00000630065.2:c.-215G>C ENSP00000487549.1:n.-215G>C
NM_020451.2:c.1358G>C NP_065184.2:p.Trp453Ser
NM_206926.1:c.1256G>C NP_996809.1:p.Trp419Ser
NM_020451.3:c.1358G>C MANE Select NP_065184.2:p.Trp453Ser
NM_206926.2:c.1256G>C NP_996809.1:p.Trp419Ser
Search 100 bp 5'
Search 100 bp 3'