Canonical Allele Identifier: CA2322027

Gene: SCN11A

Linked Data

• ClinVar Variation Id: 541570
• ClinVar RCV Id: RCV000651875
• dbSNP Id: rs149681198
• ExAC: 3:38936346 C / T
• gnomAD v2: 3-38936346-C-T
• gnomAD v3: 3-38894855-C-T
• gnomAD v4: 3-38894855-C-T
• MyVariant Identifiers: chr3:g.38936346C>T (hg19) ; chr3:g.38894855C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38894855C>T , CM000665.2:g.38894855C>T	GRCh38
NC_000003.11:g.38936346C>T , CM000665.1:g.38936346C>T	GRCh37
NC_000003.10:g.38911350C>T	NCBI36
NG_033859.1:g.60707G>A
NG_033859.2:g.162132G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000302328.9:c.2513G>A MANE Select	ENSP00000307599.3:p.Arg838Gln
ENST00000668754.1:c.2513G>A	ENSP00000499569.1:p.Arg838Gln
ENST00000675223.1:c.2513G>A	ENSP00000502481.1:p.Arg838Gln
ENST00000675672.1:c.2513G>A	ENSP00000502446.1:p.Arg838Gln
ENST00000675892.1:c.2333G>A	ENSP00000502318.1:p.Arg778Gln
ENST00000676045.1:c.2557G>A	ENSP00000501685.1:n.2557G>A
ENST00000676176.1:c.2132G>A	ENSP00000501891.1:p.Arg711Gln
ENST00000302328.7:c.2513G>A	ENSP00000307599.3:p.Arg838Gln
ENST00000444237.2:c.2513G>A	ENSP00000408028.2:p.Arg838Gln
ENST00000456224.7:c.2513G>A	ENSP00000416757.3:p.Arg838Gln
NM_001287223.1:c.2513G>A	NP_001274152.1:p.Arg838Gln
NM_014139.2:c.2513G>A	NP_054858.2:p.Arg838Gln
XM_011533320.1:c.2513G>A	XP_011531622.1:p.Arg838Gln
XM_011533321.1:c.1850G>A	XP_011531623.1:p.Arg617Gln
XM_011533322.1:c.1061G>A	XP_011531624.1:p.Arg354Gln
NM_001349253.1:c.2513G>A	NP_001336182.1:p.Arg838Gln
XM_011533321.2:c.1850G>A	XP_011531623.1:p.Arg617Gln
XM_017005647.1:c.2888G>A	XP_016861136.1:p.Arg963Gln
XM_017005648.1:c.2315G>A	XP_016861137.1:p.Arg772Gln
XM_017005650.1:c.2513G>A	XP_016861139.1:p.Arg838Gln
XM_017005651.1:c.2240G>A	XP_016861140.1:p.Arg747Gln
XM_017005652.1:c.2513G>A	XP_016861141.1:p.Arg838Gln
XM_017005653.1:c.917G>A	XP_016861142.1:p.Arg306Gln
NM_001349253.2:c.2513G>A MANE Select	NP_001336182.1:p.Arg838Gln
NM_014139.3:c.2513G>A	NP_054858.2:p.Arg838Gln