Canonical Allele Identifier: CA696822

Gene: SELENON

Linked Data

• ClinVar Variation Id: 876389
• ClinVar RCV Id: RCV001101131 ; RCV001373952
• dbSNP Id: rs199920149
• ExAC: 1:26139191 C / T
• gnomAD v2: 1-26139191-C-T
• gnomAD v3: 1-25812700-C-T
• gnomAD v4: 1-25812700-C-T
• MyVariant Identifiers: chr1:g.26139191C>T (hg19) ; chr1:g.25812700C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.25812700C>T , CM000663.2:g.25812700C>T	GRCh38
NC_000001.10:g.26139191C>T , CM000663.1:g.26139191C>T	GRCh37
NC_000001.9:g.26011778C>T	NCBI36
NG_009930.1:g.17525C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000354177.9:c.1124C>T	ENSP00000346109.5:p.Pro375Leu
ENST00000494537.2:c.1193C>T	ENSP00000508308.1:p.Pro398Leu
ENST00000361547.7:c.1295C>T MANE Select	ENSP00000355141.2:p.Pro432Leu
ENST00000354177.8:c.1193C>T	ENSP00000346109.4:p.Pro398Leu
ENST00000361547.6:c.1295C>T	ENSP00000355141.2:p.Pro432Leu
ENST00000374315.1:c.1193C>T	ENSP00000363434.1:p.Pro398Leu
ENST00000559265.1:n.255+821C>T
ENST00000630065.2:c.-278C>T	ENSP00000487549.1:n.-278C>T
NM_020451.2:c.1295C>T	NP_065184.2:p.Pro432Leu
NM_206926.1:c.1193C>T	NP_996809.1:p.Pro398Leu
NM_020451.3:c.1295C>T MANE Select	NP_065184.2:p.Pro432Leu
NM_206926.2:c.1193C>T	NP_996809.1:p.Pro398Leu