Canonical Allele Identifier: CA16617961
Gene: SCN11A HGNC NCBI

Linked Data

ClinVar Variation Id: 422331
ClinVar RCV Id: RCV000480155
dbSNP Id: rs1064795711
MyVariant Identifiers: chr3:g.38945481C>T (hg19) chr3:g.38903990C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.38903990C>T , CM000665.2:g.38903990C>T GRCh38
NC_000003.11:g.38945481C>T , CM000665.1:g.38945481C>T GRCh37
NC_000003.10:g.38920485C>T NCBI36
NG_033859.1:g.51572G>A
NG_033859.2:g.152997G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000302328.9:c.1717G>A MANE Select ENSP00000307599.3:p.Val573Met
ENST00000668754.1:c.1717G>A ENSP00000499569.1:p.Val573Met
ENST00000675223.1:c.1717G>A ENSP00000502481.1:p.Val573Met
ENST00000675672.1:c.1717G>A ENSP00000502446.1:p.Val573Met
ENST00000675892.1:c.1537G>A ENSP00000502318.1:p.Val513Met
ENST00000676045.1:c.1761G>A ENSP00000501685.1:n.1761G>A
ENST00000676176.1:c.1717G>A ENSP00000501891.1:p.Val573Met
ENST00000302328.7:c.1717G>A ENSP00000307599.3:p.Val573Met
ENST00000444237.2:c.1717G>A ENSP00000408028.2:p.Val573Met
ENST00000456224.7:c.1717G>A ENSP00000416757.3:p.Val573Met
NM_001287223.1:c.1717G>A NP_001274152.1:p.Val573Met
NM_014139.2:c.1717G>A NP_054858.2:p.Val573Met
XM_011533320.1:c.1717G>A XP_011531622.1:p.Val573Met
XM_011533321.1:c.1054G>A XP_011531623.1:p.Val352Met
XM_011533322.1:c.265G>A XP_011531624.1:p.Val89Met
NM_001349253.1:c.1717G>A NP_001336182.1:p.Val573Met
XM_011533321.2:c.1054G>A XP_011531623.1:p.Val352Met
XM_017005647.1:c.2092G>A XP_016861136.1:p.Val698Met
XM_017005648.1:c.1519G>A XP_016861137.1:p.Val507Met
XM_017005650.1:c.1717G>A XP_016861139.1:p.Val573Met
XM_017005651.1:c.1444G>A XP_016861140.1:p.Val482Met
XM_017005652.1:c.1717G>A XP_016861141.1:p.Val573Met
XM_017005653.1:c.121G>A XP_016861142.1:p.Val41Met
NM_001349253.2:c.1717G>A MANE Select NP_001336182.1:p.Val573Met
NM_014139.3:c.1717G>A NP_054858.2:p.Val573Met
Search 100 bp 5'
Search 100 bp 3'