Canonical Allele Identifier: CA2321617

Gene: SCN11A

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38863166C>A , CM000665.2:g.38863166C>A	GRCh38
NC_000003.11:g.38904657C>A , CM000665.1:g.38904657C>A	GRCh37
NC_000003.10:g.38879661C>A	NCBI36
NG_033859.1:g.92396G>T
NG_033859.2:g.193821G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001349253.2:c.4056+29G>T MANE Select	NP_001336182.1:n.4056+29G>T
ENST00000302328.9:c.4056+29G>T MANE Select	ENSP00000307599.3:n.4056+29G>T
NM_001287223.1:c.4056+29G>T	NP_001274152.1:n.4056+29G>T
NM_001349253.1:c.4056+29G>T	NP_001336182.1:n.4056+29G>T
NM_014139.2:c.4056+29G>T	NP_054858.2:n.4056+29G>T
NM_014139.3:c.4056+29G>T	NP_054858.2:n.4056+29G>T
ENST00000302328.7:c.4056+29G>T	ENSP00000307599.3:n.4056+29G>T
ENST00000444237.2:c.4056+29G>T	ENSP00000408028.2:n.4056+29G>T
ENST00000456224.7:c.3942+29G>T	ENSP00000416757.3:n.3942+29G>T
ENST00000668754.1:c.4056+29G>T	ENSP00000499569.1:n.4056+29G>T
ENST00000675223.1:c.4056+29G>T	ENSP00000502481.1:n.4056+29G>T
ENST00000675672.1:c.4110+29G>T	ENSP00000502446.1:n.4110+29G>T
ENST00000675892.1:c.3876+29G>T	ENSP00000502318.1:n.3876+29G>T
ENST00000676045.1:c.4100+29G>T	ENSP00000501685.1:n.4100+29G>T
ENST00000676176.1:c.3675+29G>T	ENSP00000501891.1:n.3675+29G>T
XM_011533320.1:c.4056+29G>T	XP_011531622.1:n.4056+29G>T
XM_011533321.1:c.3393+29G>T	XP_011531623.1:n.3393+29G>T
XM_011533321.2:c.3393+29G>T	XP_011531623.1:n.3393+29G>T
XM_011533322.1:c.2604+29G>T	XP_011531624.1:n.2604+29G>T
XM_017005647.1:c.4431+29G>T	XP_016861136.1:n.4431+29G>T
XM_017005648.1:c.3858+29G>T	XP_016861137.1:n.3858+29G>T
XM_017005650.1:c.4056+29G>T	XP_016861139.1:n.4056+29G>T
XM_017005651.1:c.3783+29G>T	XP_016861140.1:n.3783+29G>T
XM_017005652.1:c.4056+29G>T	XP_016861141.1:n.4056+29G>T
XM_017005653.1:c.2460+29G>T	XP_016861142.1:n.2460+29G>T