Canonical Allele Identifier: CA145432
Gene: SCN11A HGNC NCBI

Linked Data

ClinVar Variation Id: 89011
ClinVar RCV Id: RCV000074494
dbSNP Id: rs483352920

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.38894936A>G , CM000665.2:g.38894936A>G GRCh38
NC_000003.11:g.38936427A>G , CM000665.1:g.38936427A>G GRCh37
NC_000003.10:g.38911431A>G NCBI36
NG_033859.1:g.60626T>C
NG_033859.2:g.162051T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000302328.9:c.2432T>C MANE Select ENSP00000307599.3:p.Leu811Pro
ENST00000668754.1:c.2432T>C ENSP00000499569.1:p.Leu811Pro
ENST00000675223.1:n.2432T>C ENSP00000502481.1:p.Leu811Pro
ENST00000675672.1:n.2432T>C ENSP00000502446.1:p.Leu811Pro
ENST00000675892.1:n.2252T>C ENSP00000502318.1:p.Leu751Pro
ENST00000676045.1:n.2476T>C ENSP00000501685.1:p.=
ENST00000676176.1:n.2051T>C ENSP00000501891.1:p.Leu684Pro
ENST00000302328.7:c.2432T>C ENSP00000307599.3:p.Leu811Pro
ENST00000444237.2:c.2432T>C ENSP00000408028.2:p.Leu811Pro
ENST00000456224.7:n.2432T>C ENSP00000416757.3:p.Leu811Pro
NM_001287223.1:c.2432T>C NP_001274152.1:p.Leu811Pro
NM_014139.2:c.2432T>C NP_054858.2:p.Leu811Pro
XM_011533320.1:c.2432T>C XP_011531622.1:p.Leu811Pro
XM_011533321.1:c.1769T>C XP_011531623.1:p.Leu590Pro
XM_011533322.1:c.980T>C XP_011531624.1:p.Leu327Pro
NM_001349253.1:c.2432T>C NP_001336182.1:p.Leu811Pro
XM_011533321.2:c.1769T>C XP_011531623.1:p.Leu590Pro
XM_017005647.1:c.2807T>C XP_016861136.1:p.Leu936Pro
XM_017005648.1:c.2234T>C XP_016861137.1:p.Leu745Pro
XM_017005650.1:c.2432T>C XP_016861139.1:p.Leu811Pro
XM_017005651.1:c.2159T>C XP_016861140.1:p.Leu720Pro
XM_017005652.1:c.2432T>C XP_016861141.1:p.Leu811Pro
XM_017005653.1:c.836T>C XP_016861142.1:p.Leu279Pro
NM_001349253.2:c.2432T>C MANE Select NP_001336182.1:p.Leu811Pro
NM_014139.3:c.2432T>C NP_054858.2:p.Leu811Pro