Canonical Allele Identifier: CA2321454

Gene: SCN11A

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38847273G>A , CM000665.2:g.38847273G>A	GRCh38
NC_000003.11:g.38888764G>A , CM000665.1:g.38888764G>A	GRCh37
NC_000003.10:g.38863768G>A	NCBI36
NG_033859.1:g.108289C>T
NG_033859.2:g.209714C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001349253.2:c.4797C>T MANE Select	NP_001336182.1:p.Tyr1599=
ENST00000302328.9:c.4797C>T MANE Select	ENSP00000307599.3:p.Tyr1599=
NM_001287223.1:c.4797C>T	NP_001274152.1:p.Tyr1599=
NM_001349253.1:c.4797C>T	NP_001336182.1:p.Tyr1599=
NM_014139.2:c.4797C>T	NP_054858.2:p.Tyr1599=
NM_014139.3:c.4797C>T	NP_054858.2:p.Tyr1599=
ENST00000302328.7:c.4797C>T	ENSP00000307599.3:p.Tyr1599=
ENST00000456224.7:c.4683C>T	ENSP00000416757.3:p.Tyr1561=
ENST00000668754.1:c.4797C>T	ENSP00000499569.1:p.Tyr1599=
ENST00000675223.1:c.4876C>T	ENSP00000502481.1:n.4876C>T
ENST00000675672.1:c.4851C>T	ENSP00000502446.1:n.4851C>T
ENST00000675892.1:c.4617C>T	ENSP00000502318.1:p.Tyr1539=
ENST00000676045.1:c.4841C>T	ENSP00000501685.1:n.4841C>T
ENST00000676176.1:c.4416C>T	ENSP00000501891.1:p.Tyr1472=
XM_011533320.1:c.4797C>T	XP_011531622.1:p.Tyr1599=
XM_011533321.1:c.4134C>T	XP_011531623.1:p.Tyr1378=
XM_011533321.2:c.4134C>T	XP_011531623.1:p.Tyr1378=
XM_011533322.1:c.3345C>T	XP_011531624.1:p.Tyr1115=
XM_017005647.1:c.5172C>T	XP_016861136.1:p.Tyr1724=
XM_017005648.1:c.4599C>T	XP_016861137.1:p.Tyr1533=
XM_017005650.1:c.4797C>T	XP_016861139.1:p.Tyr1599=
XM_017005651.1:c.4524C>T	XP_016861140.1:p.Tyr1508=
XM_017005653.1:c.3201C>T	XP_016861142.1:p.Tyr1067=