Canonical Allele Identifier: CA2322020

Gene: SCN11A

Linked Data

• ClinVar Variation Id: 474707
• ClinVar RCV Id: RCV002525311
• dbSNP Id: rs201598026
• ExAC: 3:38936329 A / G
• gnomAD v2: 3-38936329-A-G
• gnomAD v3: 3-38894838-A-G
• gnomAD v4: 3-38894838-A-G
• MyVariant Identifiers: chr3:g.38936329A>G (hg19) ; chr3:g.38894838A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38894838A>G , CM000665.2:g.38894838A>G	GRCh38
NC_000003.11:g.38936329A>G , CM000665.1:g.38936329A>G	GRCh37
NC_000003.10:g.38911333A>G	NCBI36
NG_033859.1:g.60724T>C
NG_033859.2:g.162149T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000302328.9:c.2530T>C MANE Select	ENSP00000307599.3:p.Cys844Arg
ENST00000668754.1:c.2530T>C	ENSP00000499569.1:p.Cys844Arg
ENST00000675223.1:c.2530T>C	ENSP00000502481.1:p.Cys844Arg
ENST00000675672.1:c.2530T>C	ENSP00000502446.1:p.Cys844Arg
ENST00000675892.1:c.2350T>C	ENSP00000502318.1:p.Cys784Arg
ENST00000676045.1:c.2574T>C	ENSP00000501685.1:n.2574T>C
ENST00000676176.1:c.2149T>C	ENSP00000501891.1:p.Cys717Arg
ENST00000302328.7:c.2530T>C	ENSP00000307599.3:p.Cys844Arg
ENST00000444237.2:c.2530T>C	ENSP00000408028.2:p.Cys844Arg
ENST00000456224.7:c.2530T>C	ENSP00000416757.3:p.Cys844Arg
NM_001287223.1:c.2530T>C	NP_001274152.1:p.Cys844Arg
NM_014139.2:c.2530T>C	NP_054858.2:p.Cys844Arg
XM_011533320.1:c.2530T>C	XP_011531622.1:p.Cys844Arg
XM_011533321.1:c.1867T>C	XP_011531623.1:p.Cys623Arg
XM_011533322.1:c.1078T>C	XP_011531624.1:p.Cys360Arg
NM_001349253.1:c.2530T>C	NP_001336182.1:p.Cys844Arg
XM_011533321.2:c.1867T>C	XP_011531623.1:p.Cys623Arg
XM_017005647.1:c.2905T>C	XP_016861136.1:p.Cys969Arg
XM_017005648.1:c.2332T>C	XP_016861137.1:p.Cys778Arg
XM_017005650.1:c.2530T>C	XP_016861139.1:p.Cys844Arg
XM_017005651.1:c.2257T>C	XP_016861140.1:p.Cys753Arg
XM_017005652.1:c.2530T>C	XP_016861141.1:p.Cys844Arg
XM_017005653.1:c.934T>C	XP_016861142.1:p.Cys312Arg
NM_001349253.2:c.2530T>C MANE Select	NP_001336182.1:p.Cys844Arg
NM_014139.3:c.2530T>C	NP_054858.2:p.Cys844Arg