Canonical Allele Identifier: CA696838

Gene: SELENON

Linked Data

• ClinVar Variation Id: 942173
• ClinVar RCV Id: RCV001212108
• dbSNP Id: rs374687219
• ExAC: 1:26139259 G / T
• gnomAD v2: 1-26139259-G-T
• gnomAD v3: 1-25812768-G-T
• gnomAD v4: 1-25812768-G-T
• MyVariant Identifiers: chr1:g.26139259G>T (hg19) ; chr1:g.25812768G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.25812768G>T , CM000663.2:g.25812768G>T	GRCh38
NC_000001.10:g.26139259G>T , CM000663.1:g.26139259G>T	GRCh37
NC_000001.9:g.26011846G>T	NCBI36
NG_009930.1:g.17593G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000354177.9:c.1192G>T	ENSP00000346109.5:p.Ala398Ser
ENST00000494537.2:c.1261G>T	ENSP00000508308.1:p.Ala421Ser
ENST00000361547.7:c.1363G>T MANE Select	ENSP00000355141.2:p.Ala455Ser
ENST00000354177.8:c.1261G>T	ENSP00000346109.4:p.Ala421Ser
ENST00000361547.6:c.1363G>T	ENSP00000355141.2:p.Ala455Ser
ENST00000374315.1:c.1261G>T	ENSP00000363434.1:p.Ala421Ser
ENST00000494537.1:n.41G>T
ENST00000559265.1:n.255+889G>T
ENST00000630065.2:c.-210G>T	ENSP00000487549.1:n.-210G>T
NM_020451.2:c.1363G>T	NP_065184.2:p.Ala455Ser
NM_206926.1:c.1261G>T	NP_996809.1:p.Ala421Ser
NM_020451.3:c.1363G>T MANE Select	NP_065184.2:p.Ala455Ser
NM_206926.2:c.1261G>T	NP_996809.1:p.Ala421Ser