Canonical Allele Identifier: CA696649
Gene: SELENON HGNC NCBI

Linked Data

ClinVar Variation Id: 2412645
ClinVar RCV Id: RCV002789938
dbSNP Id: rs762663129
ExAC: 1:26135589 G / C
gnomAD v2: 1-26135589-G-C
gnomAD v4: 1-25809098-G-C
MyVariant Identifiers: chr1:g.26135589G>C (hg19) chr1:g.25809098G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.25809098G>C , CM000663.2:g.25809098G>C GRCh38
NC_000001.10:g.26135589G>C , CM000663.1:g.26135589G>C GRCh37
NC_000001.9:g.26008176G>C NCBI36
NG_009930.1:g.13923G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000354177.9:c.649G>C ENSP00000346109.5:p.Ala217Pro
ENST00000494537.2:c.718G>C ENSP00000508308.1:p.Ala240Pro
ENST00000361547.7:c.820G>C MANE Select ENSP00000355141.2:p.Ala274Pro
ENST00000354177.8:c.718G>C ENSP00000346109.4:p.Ala240Pro
ENST00000361547.6:c.820G>C ENSP00000355141.2:p.Ala274Pro
ENST00000374315.1:c.718G>C ENSP00000363434.1:p.Ala240Pro
NM_020451.2:c.820G>C NP_065184.2:p.Ala274Pro
NM_206926.1:c.718G>C NP_996809.1:p.Ala240Pro
NM_020451.3:c.820G>C MANE Select NP_065184.2:p.Ala274Pro
NM_206926.2:c.718G>C NP_996809.1:p.Ala240Pro
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