Canonical Allele Identifier: CA521738288
Gene: SELENON HGNC NCBI

Linked Data

ClinVar Variation Id: 1112146
ClinVar RCV Id: RCV001438991
dbSNP Id: rs1300732555
gnomAD v2: 1-26135511-C-T
gnomAD v3: 1-25809020-C-T
gnomAD v4: 1-25809020-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.25809020C>T , CM000663.2:g.25809020C>T GRCh38
NC_000001.10:g.26135511C>T , CM000663.1:g.26135511C>T GRCh37
NC_000001.9:g.26008098C>T NCBI36
NG_009930.1:g.13845C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000354177.9:c.646-75C>T ENSP00000346109.5:n.646-75C>T
ENST00000494537.2:c.646-6C>T ENSP00000508308.1:n.646-6C>T
ENST00000361547.7:c.748-6C>T MANE Select ENSP00000355141.2:n.748-6C>T
ENST00000354177.8:c.646-6C>T ENSP00000346109.4:n.646-6C>T
ENST00000361547.6:c.748-6C>T ENSP00000355141.2:n.748-6C>T
ENST00000374315.1:c.646-6C>T ENSP00000363434.1:n.646-6C>T
NM_020451.2:c.748-6C>T NP_065184.2:n.748-6C>T
NM_206926.1:c.646-6C>T NP_996809.1:n.646-6C>T
NM_020451.3:c.748-6C>T MANE Select NP_065184.2:n.748-6C>T
NM_206926.2:c.646-6C>T NP_996809.1:n.646-6C>T