Canonical Allele Identifier: CA352175167

Gene: SCN11A

Linked Data

• gnomAD v4: 3-38894939-A-T
• MyVariant Identifiers: chr3:g.38936430A>T (hg19) ; chr3:g.38894939A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38894939A>T , CM000665.2:g.38894939A>T	GRCh38
NC_000003.11:g.38936430A>T , CM000665.1:g.38936430A>T	GRCh37
NC_000003.10:g.38911434A>T	NCBI36
NG_033859.1:g.60623T>A
NG_033859.2:g.162048T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000302328.9:c.2429T>A MANE Select	ENSP00000307599.3:p.Leu810Gln
ENST00000668754.1:c.2429T>A	ENSP00000499569.1:p.Leu810Gln
ENST00000675223.1:c.2429T>A	ENSP00000502481.1:p.Leu810Gln
ENST00000675672.1:c.2429T>A	ENSP00000502446.1:p.Leu810Gln
ENST00000675892.1:c.2249T>A	ENSP00000502318.1:p.Leu750Gln
ENST00000676045.1:c.2473T>A	ENSP00000501685.1:n.2473T>A
ENST00000676176.1:c.2048T>A	ENSP00000501891.1:p.Leu683Gln
ENST00000302328.7:c.2429T>A	ENSP00000307599.3:p.Leu810Gln
ENST00000444237.2:c.2429T>A	ENSP00000408028.2:p.Leu810Gln
ENST00000456224.7:c.2429T>A	ENSP00000416757.3:p.Leu810Gln
NM_001287223.1:c.2429T>A	NP_001274152.1:p.Leu810Gln
NM_014139.2:c.2429T>A	NP_054858.2:p.Leu810Gln
XM_011533320.1:c.2429T>A	XP_011531622.1:p.Leu810Gln
XM_011533321.1:c.1766T>A	XP_011531623.1:p.Leu589Gln
XM_011533322.1:c.977T>A	XP_011531624.1:p.Leu326Gln
NM_001349253.1:c.2429T>A	NP_001336182.1:p.Leu810Gln
XM_011533321.2:c.1766T>A	XP_011531623.1:p.Leu589Gln
XM_017005647.1:c.2804T>A	XP_016861136.1:p.Leu935Gln
XM_017005648.1:c.2231T>A	XP_016861137.1:p.Leu744Gln
XM_017005650.1:c.2429T>A	XP_016861139.1:p.Leu810Gln
XM_017005651.1:c.2156T>A	XP_016861140.1:p.Leu719Gln
XM_017005652.1:c.2429T>A	XP_016861141.1:p.Leu810Gln
XM_017005653.1:c.833T>A	XP_016861142.1:p.Leu278Gln
NM_001349253.2:c.2429T>A MANE Select	NP_001336182.1:p.Leu810Gln
NM_014139.3:c.2429T>A	NP_054858.2:p.Leu810Gln