Canonical Allele Identifier: CA2321407

Gene: SCN11A

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38847003G>C , CM000665.2:g.38847003G>C	GRCh38
NC_000003.11:g.38888494G>C , CM000665.1:g.38888494G>C	GRCh37
NC_000003.10:g.38863498G>C	NCBI36
NG_033859.1:g.108559C>G
NG_033859.2:g.209984C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001349253.2:c.5067C>G MANE Select	NP_001336182.1:p.Phe1689Leu
ENST00000302328.9:c.5067C>G MANE Select	ENSP00000307599.3:p.Phe1689Leu
NM_001287223.1:c.5067C>G	NP_001274152.1:p.Phe1689Leu
NM_001349253.1:c.5067C>G	NP_001336182.1:p.Phe1689Leu
NM_014139.2:c.5067C>G	NP_054858.2:p.Phe1689Leu
NM_014139.3:c.5067C>G	NP_054858.2:p.Phe1689Leu
ENST00000302328.7:c.5067C>G	ENSP00000307599.3:p.Phe1689Leu
ENST00000456224.7:c.4953C>G	ENSP00000416757.3:p.Phe1651Leu
ENST00000668754.1:c.5067C>G	ENSP00000499569.1:p.Phe1689Leu
ENST00000675223.1:c.5146C>G	ENSP00000502481.1:n.5146C>G
ENST00000675672.1:c.5121C>G	ENSP00000502446.1:n.5121C>G
ENST00000675892.1:c.4887C>G	ENSP00000502318.1:p.Phe1629Leu
ENST00000676045.1:c.5111C>G	ENSP00000501685.1:n.5111C>G
ENST00000676176.1:c.4686C>G	ENSP00000501891.1:p.Phe1562Leu
XM_011533320.1:c.5067C>G	XP_011531622.1:p.Phe1689Leu
XM_011533321.1:c.4404C>G	XP_011531623.1:p.Phe1468Leu
XM_011533321.2:c.4404C>G	XP_011531623.1:p.Phe1468Leu
XM_011533322.1:c.3615C>G	XP_011531624.1:p.Phe1205Leu
XM_017005647.1:c.5442C>G	XP_016861136.1:p.Phe1814Leu
XM_017005648.1:c.4869C>G	XP_016861137.1:p.Phe1623Leu
XM_017005650.1:c.5067C>G	XP_016861139.1:p.Phe1689Leu
XM_017005651.1:c.4794C>G	XP_016861140.1:p.Phe1598Leu
XM_017005653.1:c.3471C>G	XP_016861142.1:p.Phe1157Leu