Canonical Allele Identifier: CA352168024
Gene: SCN11A HGNC NCBI

Linked Data

ClinVar Variation Id: 426113
ClinVar RCV Id: RCV000488990 RCV000489242
dbSNP Id: rs1085307142
MyVariant Identifiers: chr3:g.38950600A>G (hg19) chr3:g.38909109A>G (hg38)
PubMed: PMID:28289907
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.38909109A>G , CM000665.2:g.38909109A>G GRCh38
NC_000003.11:g.38950600A>G , CM000665.1:g.38950600A>G GRCh37
NC_000003.10:g.38925604A>G NCBI36
NG_033859.1:g.46453T>C
NG_033859.2:g.147878T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000302328.9:c.1187T>C MANE Select ENSP00000307599.3:p.Leu396Pro
ENST00000668754.1:c.1187T>C ENSP00000499569.1:p.Leu396Pro
ENST00000675223.1:c.1187T>C ENSP00000502481.1:p.Leu396Pro
ENST00000675672.1:c.1187T>C ENSP00000502446.1:p.Leu396Pro
ENST00000675892.1:c.1007T>C ENSP00000502318.1:p.Leu336Pro
ENST00000676045.1:c.1231T>C ENSP00000501685.1:n.1231T>C
ENST00000676176.1:c.1187T>C ENSP00000501891.1:p.Leu396Pro
ENST00000302328.7:c.1187T>C ENSP00000307599.3:p.Leu396Pro
ENST00000444237.2:c.1187T>C ENSP00000408028.2:p.Leu396Pro
ENST00000456224.7:c.1187T>C ENSP00000416757.3:p.Leu396Pro
NM_001287223.1:c.1187T>C NP_001274152.1:p.Leu396Pro
NM_014139.2:c.1187T>C NP_054858.2:p.Leu396Pro
XM_011533320.1:c.1187T>C XP_011531622.1:p.Leu396Pro
XM_011533321.1:c.524T>C XP_011531623.1:p.Leu175Pro
NM_001349253.1:c.1187T>C NP_001336182.1:p.Leu396Pro
XM_011533321.2:c.524T>C XP_011531623.1:p.Leu175Pro
XM_017005647.1:c.1562T>C XP_016861136.1:p.Leu521Pro
XM_017005648.1:c.1101+957T>C XP_016861137.1:n.1101+957T>C
XM_017005650.1:c.1187T>C XP_016861139.1:p.Leu396Pro
XM_017005651.1:c.914T>C XP_016861140.1:p.Leu305Pro
XM_017005652.1:c.1187T>C XP_016861141.1:p.Leu396Pro
NM_001349253.2:c.1187T>C MANE Select NP_001336182.1:p.Leu396Pro
NM_014139.3:c.1187T>C NP_054858.2:p.Leu396Pro
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