Canonical Allele Identifier: CA352175199

Gene: SCN11A

Linked Data

• MyVariant Identifiers: chr3:g.38936446G>T (hg19) ; chr3:g.38894955G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38894955G>T , CM000665.2:g.38894955G>T	GRCh38
NC_000003.11:g.38936446G>T , CM000665.1:g.38936446G>T	GRCh37
NC_000003.10:g.38911450G>T	NCBI36
NG_033859.1:g.60607C>A
NG_033859.2:g.162032C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000302328.9:c.2413C>A MANE Select	ENSP00000307599.3:p.Leu805Ile
ENST00000668754.1:c.2413C>A	ENSP00000499569.1:p.Leu805Ile
ENST00000675223.1:c.2413C>A	ENSP00000502481.1:p.Leu805Ile
ENST00000675672.1:c.2413C>A	ENSP00000502446.1:p.Leu805Ile
ENST00000675892.1:c.2233C>A	ENSP00000502318.1:p.Leu745Ile
ENST00000676045.1:c.2457C>A	ENSP00000501685.1:n.2457C>A
ENST00000676176.1:c.2032C>A	ENSP00000501891.1:p.Leu678Ile
ENST00000302328.7:c.2413C>A	ENSP00000307599.3:p.Leu805Ile
ENST00000444237.2:c.2413C>A	ENSP00000408028.2:p.Leu805Ile
ENST00000456224.7:c.2413C>A	ENSP00000416757.3:p.Leu805Ile
NM_001287223.1:c.2413C>A	NP_001274152.1:p.Leu805Ile
NM_014139.2:c.2413C>A	NP_054858.2:p.Leu805Ile
XM_011533320.1:c.2413C>A	XP_011531622.1:p.Leu805Ile
XM_011533321.1:c.1750C>A	XP_011531623.1:p.Leu584Ile
XM_011533322.1:c.961C>A	XP_011531624.1:p.Leu321Ile
NM_001349253.1:c.2413C>A	NP_001336182.1:p.Leu805Ile
XM_011533321.2:c.1750C>A	XP_011531623.1:p.Leu584Ile
XM_017005647.1:c.2788C>A	XP_016861136.1:p.Leu930Ile
XM_017005648.1:c.2215C>A	XP_016861137.1:p.Leu739Ile
XM_017005650.1:c.2413C>A	XP_016861139.1:p.Leu805Ile
XM_017005651.1:c.2140C>A	XP_016861140.1:p.Leu714Ile
XM_017005652.1:c.2413C>A	XP_016861141.1:p.Leu805Ile
XM_017005653.1:c.817C>A	XP_016861142.1:p.Leu273Ile
NM_001349253.2:c.2413C>A MANE Select	NP_001336182.1:p.Leu805Ile
NM_014139.3:c.2413C>A	NP_054858.2:p.Leu805Ile