Canonical Allele Identifier: CA2321898

Gene: SCN11A

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38885359T>C , CM000665.2:g.38885359T>C	GRCh38
NC_000003.11:g.38926850T>C , CM000665.1:g.38926850T>C	GRCh37
NC_000003.10:g.38901854T>C	NCBI36
NG_033859.1:g.70203A>G
NG_033859.2:g.171628A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302328.9:c.2993A>G MANE Select	ENSP00000307599.3:p.Asp998Gly
ENST00000668754.1:c.2993A>G	ENSP00000499569.1:p.Asp998Gly
ENST00000675223.1:c.2993A>G	ENSP00000502481.1:p.Asp998Gly
ENST00000675672.1:c.3047A>G	ENSP00000502446.1:n.3047A>G
ENST00000675892.1:c.2813A>G	ENSP00000502318.1:p.Asp938Gly
ENST00000676045.1:c.3037A>G	ENSP00000501685.1:n.3037A>G
ENST00000676176.1:c.2612A>G	ENSP00000501891.1:p.Asp871Gly
ENST00000302328.7:c.2993A>G	ENSP00000307599.3:p.Asp998Gly
ENST00000444237.2:c.2993A>G	ENSP00000408028.2:p.Asp998Gly
ENST00000456224.7:c.2879A>G	ENSP00000416757.3:p.Asp960Gly
NM_001287223.1:c.2993A>G	NP_001274152.1:p.Asp998Gly
NM_014139.2:c.2993A>G	NP_054858.2:p.Asp998Gly
XM_011533320.1:c.2993A>G	XP_011531622.1:p.Asp998Gly
XM_011533321.1:c.2330A>G	XP_011531623.1:p.Asp777Gly
XM_011533322.1:c.1541A>G	XP_011531624.1:p.Asp514Gly
NM_001349253.1:c.2993A>G	NP_001336182.1:p.Asp998Gly
XM_011533321.2:c.2330A>G	XP_011531623.1:p.Asp777Gly
XM_017005647.1:c.3368A>G	XP_016861136.1:p.Asp1123Gly
XM_017005648.1:c.2795A>G	XP_016861137.1:p.Asp932Gly
XM_017005650.1:c.2993A>G	XP_016861139.1:p.Asp998Gly
XM_017005651.1:c.2720A>G	XP_016861140.1:p.Asp907Gly
XM_017005652.1:c.2993A>G	XP_016861141.1:p.Asp998Gly
XM_017005653.1:c.1397A>G	XP_016861142.1:p.Asp466Gly
NM_001349253.2:c.2993A>G MANE Select	NP_001336182.1:p.Asp998Gly
NM_014139.3:c.2993A>G	NP_054858.2:p.Asp998Gly