Canonical Allele Identifier: CA1358718197
Gene: SCN11A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.38894742G= , CM000665.2:g.38894742G= GRCh38
NC_000003.11:g.38936233G= , CM000665.1:g.38936233G= GRCh37
NC_000003.10:g.38911237G= NCBI36
NG_033859.1:g.60820C=
NG_033859.2:g.162245C=

Transcript Alleles

HGVS Amino-acid change
ENST00000302328.9:c.2626C= MANE Select ENSP00000307599.3:p.Gln876=
ENST00000668754.1:c.2626C= ENSP00000499569.1:p.Gln876=
ENST00000675223.1:c.2626C= ENSP00000502481.1:p.Gln876=
ENST00000675672.1:c.2626C= ENSP00000502446.1:p.Gln876=
ENST00000675892.1:c.2446C= ENSP00000502318.1:p.Gln816=
ENST00000676045.1:c.2670C= ENSP00000501685.1:n.2670C=
ENST00000676176.1:c.2245C= ENSP00000501891.1:p.Gln749=
ENST00000302328.7:c.2626C= ENSP00000307599.3:p.Gln876=
ENST00000444237.2:c.2626C= ENSP00000408028.2:p.Gln876=
ENST00000456224.7:c.2626C= ENSP00000416757.3:p.Gln876=
NM_001287223.1:c.2626C= NP_001274152.1:p.Gln876=
NM_014139.2:c.2626C= NP_054858.2:p.Gln876=
XM_011533320.1:c.2626C= XP_011531622.1:p.Gln876=
XM_011533321.1:c.1963C= XP_011531623.1:p.Gln655=
XM_011533322.1:c.1174C= XP_011531624.1:p.Gln392=
NM_001349253.1:c.2626C= NP_001336182.1:p.Gln876=
XM_011533321.2:c.1963C= XP_011531623.1:p.Gln655=
XM_017005647.1:c.3001C= XP_016861136.1:p.Gln1001=
XM_017005648.1:c.2428C= XP_016861137.1:p.Gln810=
XM_017005650.1:c.2626C= XP_016861139.1:p.Gln876=
XM_017005651.1:c.2353C= XP_016861140.1:p.Gln785=
XM_017005652.1:c.2626C= XP_016861141.1:p.Gln876=
XM_017005653.1:c.1030C= XP_016861142.1:p.Gln344=
NM_001349253.2:c.2626C= MANE Select NP_001336182.1:p.Gln876=
NM_014139.3:c.2626C= NP_054858.2:p.Gln876=