Canonical Allele Identifier: CA72997654

Gene: SCN11A

Linked Data

• dbSNP Id: rs919586323
• gnomAD v3: 3-38894786-T-C
• gnomAD v4: 3-38894786-T-C
• MyVariant Identifiers: chr3:g.38936277T>C (hg19) ; chr3:g.38894786T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38894786T>C , CM000665.2:g.38894786T>C	GRCh38
NC_000003.11:g.38936277T>C , CM000665.1:g.38936277T>C	GRCh37
NC_000003.10:g.38911281T>C	NCBI36
NG_033859.1:g.60776A>G
NG_033859.2:g.162201A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302328.9:c.2582A>G MANE Select	ENSP00000307599.3:p.Gln861Arg
ENST00000668754.1:c.2582A>G	ENSP00000499569.1:p.Gln861Arg
ENST00000675223.1:c.2582A>G	ENSP00000502481.1:p.Gln861Arg
ENST00000675672.1:c.2582A>G	ENSP00000502446.1:p.Gln861Arg
ENST00000675892.1:c.2402A>G	ENSP00000502318.1:p.Gln801Arg
ENST00000676045.1:c.2626A>G	ENSP00000501685.1:n.2626A>G
ENST00000676176.1:c.2201A>G	ENSP00000501891.1:p.Gln734Arg
ENST00000302328.7:c.2582A>G	ENSP00000307599.3:p.Gln861Arg
ENST00000444237.2:c.2582A>G	ENSP00000408028.2:p.Gln861Arg
ENST00000456224.7:c.2582A>G	ENSP00000416757.3:p.Gln861Arg
NM_001287223.1:c.2582A>G	NP_001274152.1:p.Gln861Arg
NM_014139.2:c.2582A>G	NP_054858.2:p.Gln861Arg
XM_011533320.1:c.2582A>G	XP_011531622.1:p.Gln861Arg
XM_011533321.1:c.1919A>G	XP_011531623.1:p.Gln640Arg
XM_011533322.1:c.1130A>G	XP_011531624.1:p.Gln377Arg
NM_001349253.1:c.2582A>G	NP_001336182.1:p.Gln861Arg
XM_011533321.2:c.1919A>G	XP_011531623.1:p.Gln640Arg
XM_017005647.1:c.2957A>G	XP_016861136.1:p.Gln986Arg
XM_017005648.1:c.2384A>G	XP_016861137.1:p.Gln795Arg
XM_017005650.1:c.2582A>G	XP_016861139.1:p.Gln861Arg
XM_017005651.1:c.2309A>G	XP_016861140.1:p.Gln770Arg
XM_017005652.1:c.2582A>G	XP_016861141.1:p.Gln861Arg
XM_017005653.1:c.986A>G	XP_016861142.1:p.Gln329Arg
NM_001349253.2:c.2582A>G MANE Select	NP_001336182.1:p.Gln861Arg
NM_014139.3:c.2582A>G	NP_054858.2:p.Gln861Arg