Canonical Allele Identifier: CA2322550

Gene: SCN11A

Linked Data

• ClinVar Variation Id: 2421466
• ClinVar RCV Id: RCV003115767
• dbSNP Id: rs775199760
• ExAC: 3:38966954 G / A
• gnomAD v2: 3-38966954-G-A
• gnomAD v4: 3-38925463-G-A
• MyVariant Identifiers: chr3:g.38966954G>A (hg19) ; chr3:g.38925463G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38925463G>A , CM000665.2:g.38925463G>A	GRCh38
NC_000003.11:g.38966954G>A , CM000665.1:g.38966954G>A	GRCh37
NC_000003.10:g.38941958G>A	NCBI36
NG_033859.1:g.30099C>T
NG_033859.2:g.131524C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000302328.9:c.664C>T MANE Select	ENSP00000307599.3:p.Arg222Cys
ENST00000668754.1:c.664C>T	ENSP00000499569.1:p.Arg222Cys
ENST00000675223.1:c.664C>T	ENSP00000502481.1:p.Arg222Cys
ENST00000675672.1:c.664C>T	ENSP00000502446.1:p.Arg222Cys
ENST00000675892.1:c.664C>T	ENSP00000502318.1:p.Arg222Cys
ENST00000676045.1:c.708C>T	ENSP00000501685.1:n.708C>T
ENST00000676176.1:c.664C>T	ENSP00000501891.1:p.Arg222Cys
ENST00000302328.7:c.664C>T	ENSP00000307599.3:p.Arg222Cys
ENST00000444237.2:c.664C>T	ENSP00000408028.2:p.Arg222Cys
ENST00000456224.7:c.664C>T	ENSP00000416757.3:p.Arg222Cys
NM_001287223.1:c.664C>T	NP_001274152.1:p.Arg222Cys
NM_014139.2:c.664C>T	NP_054858.2:p.Arg222Cys
XM_011533320.1:c.664C>T	XP_011531622.1:p.Arg222Cys
XM_011533321.1:c.83C>T	XP_011531623.1:p.Ala28Val
NM_001349253.1:c.664C>T	NP_001336182.1:p.Arg222Cys
XM_011533321.2:c.83C>T	XP_011531623.1:p.Ala28Val
XM_017005647.1:c.1039C>T	XP_016861136.1:p.Arg347Cys
XM_017005648.1:c.664C>T	XP_016861137.1:p.Arg222Cys
XM_017005650.1:c.664C>T	XP_016861139.1:p.Arg222Cys
XM_017005651.1:c.391C>T	XP_016861140.1:p.Arg131Cys
XM_017005652.1:c.664C>T	XP_016861141.1:p.Arg222Cys
NM_001349253.2:c.664C>T MANE Select	NP_001336182.1:p.Arg222Cys
NM_014139.3:c.664C>T	NP_054858.2:p.Arg222Cys