Canonical Allele Identifier: CA352174835

Gene: SCN11A

Linked Data

• MyVariant Identifiers: chr3:g.38936280T>A (hg19) ; chr3:g.38894789T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38894789T>A , CM000665.2:g.38894789T>A	GRCh38
NC_000003.11:g.38936280T>A , CM000665.1:g.38936280T>A	GRCh37
NC_000003.10:g.38911284T>A	NCBI36
NG_033859.1:g.60773A>T
NG_033859.2:g.162198A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302328.9:c.2579A>T MANE Select	ENSP00000307599.3:p.Lys860Met
ENST00000668754.1:c.2579A>T	ENSP00000499569.1:p.Lys860Met
ENST00000675223.1:c.2579A>T	ENSP00000502481.1:p.Lys860Met
ENST00000675672.1:c.2579A>T	ENSP00000502446.1:p.Lys860Met
ENST00000675892.1:c.2399A>T	ENSP00000502318.1:p.Lys800Met
ENST00000676045.1:c.2623A>T	ENSP00000501685.1:n.2623A>T
ENST00000676176.1:c.2198A>T	ENSP00000501891.1:p.Lys733Met
ENST00000302328.7:c.2579A>T	ENSP00000307599.3:p.Lys860Met
ENST00000444237.2:c.2579A>T	ENSP00000408028.2:p.Lys860Met
ENST00000456224.7:c.2579A>T	ENSP00000416757.3:p.Lys860Met
NM_001287223.1:c.2579A>T	NP_001274152.1:p.Lys860Met
NM_014139.2:c.2579A>T	NP_054858.2:p.Lys860Met
XM_011533320.1:c.2579A>T	XP_011531622.1:p.Lys860Met
XM_011533321.1:c.1916A>T	XP_011531623.1:p.Lys639Met
XM_011533322.1:c.1127A>T	XP_011531624.1:p.Lys376Met
NM_001349253.1:c.2579A>T	NP_001336182.1:p.Lys860Met
XM_011533321.2:c.1916A>T	XP_011531623.1:p.Lys639Met
XM_017005647.1:c.2954A>T	XP_016861136.1:p.Lys985Met
XM_017005648.1:c.2381A>T	XP_016861137.1:p.Lys794Met
XM_017005650.1:c.2579A>T	XP_016861139.1:p.Lys860Met
XM_017005651.1:c.2306A>T	XP_016861140.1:p.Lys769Met
XM_017005652.1:c.2579A>T	XP_016861141.1:p.Lys860Met
XM_017005653.1:c.983A>T	XP_016861142.1:p.Lys328Met
NM_001349253.2:c.2579A>T MANE Select	NP_001336182.1:p.Lys860Met
NM_014139.3:c.2579A>T	NP_054858.2:p.Lys860Met