Canonical Allele Identifier: CA433336161
Gene: SCN11A HGNC NCBI

Linked Data

MyVariant Identifiers: chr3:g.38936336C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.38894845C>G , CM000665.2:g.38894845C>G GRCh38
NC_000003.11:g.38936336C>G , CM000665.1:g.38936336C>G GRCh37
NC_000003.10:g.38911340C>G NCBI36
NG_033859.1:g.60717G>C
NG_033859.2:g.162142G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000302328.9:c.2523G>C MANE Select ENSP00000307599.3:p.Arg841=
ENST00000668754.1:c.2523G>C ENSP00000499569.1:p.Arg841=
ENST00000675223.1:c.2523G>C ENSP00000502481.1:p.Arg841=
ENST00000675672.1:c.2523G>C ENSP00000502446.1:p.Arg841=
ENST00000675892.1:c.2343G>C ENSP00000502318.1:p.Arg781=
ENST00000676045.1:c.2567G>C ENSP00000501685.1:n.2567G>C
ENST00000676176.1:c.2142G>C ENSP00000501891.1:p.Arg714=
ENST00000302328.7:c.2523G>C ENSP00000307599.3:p.Arg841=
ENST00000444237.2:c.2523G>C ENSP00000408028.2:p.Arg841=
ENST00000456224.7:c.2523G>C ENSP00000416757.3:p.Arg841=
NM_001287223.1:c.2523G>C NP_001274152.1:p.Arg841=
NM_014139.2:c.2523G>C NP_054858.2:p.Arg841=
XM_011533320.1:c.2523G>C XP_011531622.1:p.Arg841=
XM_011533321.1:c.1860G>C XP_011531623.1:p.Arg620=
XM_011533322.1:c.1071G>C XP_011531624.1:p.Arg357=
NM_001349253.1:c.2523G>C NP_001336182.1:p.Arg841=
XM_011533321.2:c.1860G>C XP_011531623.1:p.Arg620=
XM_017005647.1:c.2898G>C XP_016861136.1:p.Arg966=
XM_017005648.1:c.2325G>C XP_016861137.1:p.Arg775=
XM_017005650.1:c.2523G>C XP_016861139.1:p.Arg841=
XM_017005651.1:c.2250G>C XP_016861140.1:p.Arg750=
XM_017005652.1:c.2523G>C XP_016861141.1:p.Arg841=
XM_017005653.1:c.927G>C XP_016861142.1:p.Arg309=
NM_001349253.2:c.2523G>C MANE Select NP_001336182.1:p.Arg841=
NM_014139.3:c.2523G>C NP_054858.2:p.Arg841=