Canonical Allele Identifier: CA416759094

Gene: SELENON

Linked Data

• ClinVar Variation Id: 1161979
• ClinVar RCV Id: RCV001506716
• dbSNP Id: rs1337830180
• gnomAD v2: 1-26135597-C-T
• gnomAD v4: 1-25809106-C-T
• MyVariant Identifiers: chr1:g.26135597C>T (hg19) ; chr1:g.25809106C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.25809106C>T , CM000663.2:g.25809106C>T	GRCh38
NC_000001.10:g.26135597C>T , CM000663.1:g.26135597C>T	GRCh37
NC_000001.9:g.26008184C>T	NCBI36
NG_009930.1:g.13931C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000354177.9:c.657C>T	ENSP00000346109.5:p.Ala219=
ENST00000494537.2:c.726C>T	ENSP00000508308.1:p.Ala242=
ENST00000361547.7:c.828C>T MANE Select	ENSP00000355141.2:p.Ala276=
ENST00000354177.8:c.726C>T	ENSP00000346109.4:p.Ala242=
ENST00000361547.6:c.828C>T	ENSP00000355141.2:p.Ala276=
ENST00000374315.1:c.726C>T	ENSP00000363434.1:p.Ala242=
NM_020451.2:c.828C>T	NP_065184.2:p.Ala276=
NM_206926.1:c.726C>T	NP_996809.1:p.Ala242=
NM_020451.3:c.828C>T MANE Select	NP_065184.2:p.Ala276=
NM_206926.2:c.726C>T	NP_996809.1:p.Ala242=