Canonical Allele Identifier: CA2322032

Gene: SCN11A

Linked Data

• ClinVar Variation Id: 744518
• ClinVar RCV Id: RCV002542164
• dbSNP Id: rs199882590
• ExAC: 3:38936381 C / T
• gnomAD v2: 3-38936381-C-T
• gnomAD v3: 3-38894890-C-T
• gnomAD v4: 3-38894890-C-T
• MyVariant Identifiers: chr3:g.38936381C>T (hg19) ; chr3:g.38894890C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38894890C>T , CM000665.2:g.38894890C>T	GRCh38
NC_000003.11:g.38936381C>T , CM000665.1:g.38936381C>T	GRCh37
NC_000003.10:g.38911385C>T	NCBI36
NG_033859.1:g.60672G>A
NG_033859.2:g.162097G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302328.9:c.2478G>A MANE Select	ENSP00000307599.3:p.Glu826=
ENST00000668754.1:c.2478G>A	ENSP00000499569.1:p.Glu826=
ENST00000675223.1:c.2478G>A	ENSP00000502481.1:p.Glu826=
ENST00000675672.1:c.2478G>A	ENSP00000502446.1:p.Glu826=
ENST00000675892.1:c.2298G>A	ENSP00000502318.1:p.Glu766=
ENST00000676045.1:c.2522G>A	ENSP00000501685.1:n.2522G>A
ENST00000676176.1:c.2097G>A	ENSP00000501891.1:p.Glu699=
ENST00000302328.7:c.2478G>A	ENSP00000307599.3:p.Glu826=
ENST00000444237.2:c.2478G>A	ENSP00000408028.2:p.Glu826=
ENST00000456224.7:c.2478G>A	ENSP00000416757.3:p.Glu826=
NM_001287223.1:c.2478G>A	NP_001274152.1:p.Glu826=
NM_014139.2:c.2478G>A	NP_054858.2:p.Glu826=
XM_011533320.1:c.2478G>A	XP_011531622.1:p.Glu826=
XM_011533321.1:c.1815G>A	XP_011531623.1:p.Glu605=
XM_011533322.1:c.1026G>A	XP_011531624.1:p.Glu342=
NM_001349253.1:c.2478G>A	NP_001336182.1:p.Glu826=
XM_011533321.2:c.1815G>A	XP_011531623.1:p.Glu605=
XM_017005647.1:c.2853G>A	XP_016861136.1:p.Glu951=
XM_017005648.1:c.2280G>A	XP_016861137.1:p.Glu760=
XM_017005650.1:c.2478G>A	XP_016861139.1:p.Glu826=
XM_017005651.1:c.2205G>A	XP_016861140.1:p.Glu735=
XM_017005652.1:c.2478G>A	XP_016861141.1:p.Glu826=
XM_017005653.1:c.882G>A	XP_016861142.1:p.Glu294=
NM_001349253.2:c.2478G>A MANE Select	NP_001336182.1:p.Glu826=
NM_014139.3:c.2478G>A	NP_054858.2:p.Glu826=