Canonical Allele Identifier: CA2322222

Gene: SCN11A

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38903963C>T , CM000665.2:g.38903963C>T	GRCh38
NC_000003.11:g.38945454C>T , CM000665.1:g.38945454C>T	GRCh37
NC_000003.10:g.38920458C>T	NCBI36
NG_033859.1:g.51599G>A
NG_033859.2:g.153024G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001349253.2:c.1744G>A MANE Select	NP_001336182.1:p.Ala582Thr
ENST00000302328.9:c.1744G>A MANE Select	ENSP00000307599.3:p.Ala582Thr
NM_001287223.1:c.1744G>A	NP_001274152.1:p.Ala582Thr
NM_001349253.1:c.1744G>A	NP_001336182.1:p.Ala582Thr
NM_014139.2:c.1744G>A	NP_054858.2:p.Ala582Thr
NM_014139.3:c.1744G>A	NP_054858.2:p.Ala582Thr
ENST00000302328.7:c.1744G>A	ENSP00000307599.3:p.Ala582Thr
ENST00000444237.2:c.1744G>A	ENSP00000408028.2:p.Ala582Thr
ENST00000456224.7:c.1744G>A	ENSP00000416757.3:p.Ala582Thr
ENST00000668754.1:c.1744G>A	ENSP00000499569.1:p.Ala582Thr
ENST00000675223.1:c.1744G>A	ENSP00000502481.1:p.Ala582Thr
ENST00000675672.1:c.1744G>A	ENSP00000502446.1:p.Ala582Thr
ENST00000675892.1:c.1564G>A	ENSP00000502318.1:p.Ala522Thr
ENST00000676045.1:c.1788G>A	ENSP00000501685.1:n.1788G>A
ENST00000676176.1:c.1744G>A	ENSP00000501891.1:p.Ala582Thr
XM_011533320.1:c.1744G>A	XP_011531622.1:p.Ala582Thr
XM_011533321.1:c.1081G>A	XP_011531623.1:p.Ala361Thr
XM_011533321.2:c.1081G>A	XP_011531623.1:p.Ala361Thr
XM_011533322.1:c.292G>A	XP_011531624.1:p.Ala98Thr
XM_017005647.1:c.2119G>A	XP_016861136.1:p.Ala707Thr
XM_017005648.1:c.1546G>A	XP_016861137.1:p.Ala516Thr
XM_017005650.1:c.1744G>A	XP_016861139.1:p.Ala582Thr
XM_017005651.1:c.1471G>A	XP_016861140.1:p.Ala491Thr
XM_017005652.1:c.1744G>A	XP_016861141.1:p.Ala582Thr
XM_017005653.1:c.148G>A	XP_016861142.1:p.Ala50Thr