Canonical Allele Identifier: CA696633

Gene: SELENON

Linked Data

• ClinVar Variation Id: 385998
• ClinVar RCV Id: RCV000419223
• dbSNP Id: rs752180175
• ExAC: 1:26135508 C / T
• gnomAD v2: 1-26135508-C-T
• gnomAD v3: 1-25809017-C-T
• gnomAD v4: 1-25809017-C-T
• MyVariant Identifiers: chr1:g.26135508C>T (hg19) ; chr1:g.25809017C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.25809017C>T , CM000663.2:g.25809017C>T	GRCh38
NC_000001.10:g.26135508C>T , CM000663.1:g.26135508C>T	GRCh37
NC_000001.9:g.26008095C>T	NCBI36
NG_009930.1:g.13842C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000354177.9:c.646-78C>T	ENSP00000346109.5:n.646-78C>T
ENST00000494537.2:c.646-9C>T	ENSP00000508308.1:n.646-9C>T
ENST00000361547.7:c.748-9C>T MANE Select	ENSP00000355141.2:n.748-9C>T
ENST00000354177.8:c.646-9C>T	ENSP00000346109.4:n.646-9C>T
ENST00000361547.6:c.748-9C>T	ENSP00000355141.2:n.748-9C>T
ENST00000374315.1:c.646-9C>T	ENSP00000363434.1:n.646-9C>T
NM_020451.2:c.748-9C>T	NP_065184.2:n.748-9C>T
NM_206926.1:c.646-9C>T	NP_996809.1:n.646-9C>T
NM_020451.3:c.748-9C>T MANE Select	NP_065184.2:n.748-9C>T
NM_206926.2:c.646-9C>T	NP_996809.1:n.646-9C>T