Canonical Allele Identifier: CA171012
Gene: SCN11A HGNC NCBI

Linked Data

ClinVar Variation Id: 157599
dbSNP Id: rs141686175

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.38872215A>G , CM000665.2:g.38872215A>G GRCh38
NC_000003.11:g.38913706A>G , CM000665.1:g.38913706A>G GRCh37
NC_000003.10:g.38888710A>G NCBI36
NG_033859.1:g.83347T>C
NG_033859.2:g.184772T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000302328.9:c.3473T>C MANE Select ENSP00000307599.3:p.Leu1158Pro
ENST00000668754.1:c.3473T>C ENSP00000499569.1:p.Leu1158Pro
ENST00000675223.1:n.3473T>C ENSP00000502481.1:p.Leu1158Pro
ENST00000675672.1:n.3527T>C ENSP00000502446.1:p.=
ENST00000675892.1:n.3293T>C ENSP00000502318.1:p.Leu1098Pro
ENST00000676045.1:n.3517T>C ENSP00000501685.1:p.=
ENST00000676176.1:n.3092T>C ENSP00000501891.1:p.Leu1031Pro
ENST00000302328.7:c.3473T>C ENSP00000307599.3:p.Leu1158Pro
ENST00000444237.2:c.3473T>C ENSP00000408028.2:p.Leu1158Pro
ENST00000456224.7:n.3359T>C ENSP00000416757.3:p.Leu1120Pro
NM_001287223.1:c.3473T>C NP_001274152.1:p.Leu1158Pro
NM_014139.2:c.3473T>C NP_054858.2:p.Leu1158Pro
XM_011533320.1:c.3473T>C XP_011531622.1:p.Leu1158Pro
XM_011533321.1:c.2810T>C XP_011531623.1:p.Leu937Pro
XM_011533322.1:c.2021T>C XP_011531624.1:p.Leu674Pro
NM_001349253.1:c.3473T>C NP_001336182.1:p.Leu1158Pro
XM_011533321.2:c.2810T>C XP_011531623.1:p.Leu937Pro
XM_017005647.1:c.3848T>C XP_016861136.1:p.Leu1283Pro
XM_017005648.1:c.3275T>C XP_016861137.1:p.Leu1092Pro
XM_017005650.1:c.3473T>C XP_016861139.1:p.Leu1158Pro
XM_017005651.1:c.3200T>C XP_016861140.1:p.Leu1067Pro
XM_017005652.1:c.3473T>C XP_016861141.1:p.Leu1158Pro
XM_017005653.1:c.1877T>C XP_016861142.1:p.Leu626Pro
NM_001349253.2:c.3473T>C MANE Select NP_001336182.1:p.Leu1158Pro
NM_014139.3:c.3473T>C NP_054858.2:p.Leu1158Pro