Canonical Allele Identifier: CA433142059
Gene: SCN11A HGNC NCBI

Linked Data

MyVariant Identifiers: chr3:g.38913717A>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.38872226A>C , CM000665.2:g.38872226A>C GRCh38
NC_000003.11:g.38913717A>C , CM000665.1:g.38913717A>C GRCh37
NC_000003.10:g.38888721A>C NCBI36
NG_033859.1:g.83336T>G
NG_033859.2:g.184761T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000302328.9:c.3462T>G MANE Select ENSP00000307599.3:p.Pro1154=
ENST00000668754.1:c.3462T>G ENSP00000499569.1:p.Pro1154=
ENST00000675223.1:c.3462T>G ENSP00000502481.1:p.Pro1154=
ENST00000675672.1:c.3516T>G ENSP00000502446.1:n.3516T>G
ENST00000675892.1:c.3282T>G ENSP00000502318.1:p.Pro1094=
ENST00000676045.1:c.3506T>G ENSP00000501685.1:n.3506T>G
ENST00000676176.1:c.3081T>G ENSP00000501891.1:p.Pro1027=
ENST00000302328.7:c.3462T>G ENSP00000307599.3:p.Pro1154=
ENST00000444237.2:c.3462T>G ENSP00000408028.2:p.Pro1154=
ENST00000456224.7:c.3348T>G ENSP00000416757.3:p.Pro1116=
NM_001287223.1:c.3462T>G NP_001274152.1:p.Pro1154=
NM_014139.2:c.3462T>G NP_054858.2:p.Pro1154=
XM_011533320.1:c.3462T>G XP_011531622.1:p.Pro1154=
XM_011533321.1:c.2799T>G XP_011531623.1:p.Pro933=
XM_011533322.1:c.2010T>G XP_011531624.1:p.Pro670=
NM_001349253.1:c.3462T>G NP_001336182.1:p.Pro1154=
XM_011533321.2:c.2799T>G XP_011531623.1:p.Pro933=
XM_017005647.1:c.3837T>G XP_016861136.1:p.Pro1279=
XM_017005648.1:c.3264T>G XP_016861137.1:p.Pro1088=
XM_017005650.1:c.3462T>G XP_016861139.1:p.Pro1154=
XM_017005651.1:c.3189T>G XP_016861140.1:p.Pro1063=
XM_017005652.1:c.3462T>G XP_016861141.1:p.Pro1154=
XM_017005653.1:c.1866T>G XP_016861142.1:p.Pro622=
NM_001349253.2:c.3462T>G MANE Select NP_001336182.1:p.Pro1154=
NM_014139.3:c.3462T>G NP_054858.2:p.Pro1154=