Canonical Allele Identifier: CA352174792

Gene: SCN11A

Linked Data

• MyVariant Identifiers: chr3:g.38936262T>C (hg19) ; chr3:g.38894771T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38894771T>C , CM000665.2:g.38894771T>C	GRCh38
NC_000003.11:g.38936262T>C , CM000665.1:g.38936262T>C	GRCh37
NC_000003.10:g.38911266T>C	NCBI36
NG_033859.1:g.60791A>G
NG_033859.2:g.162216A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302328.9:c.2597A>G MANE Select	ENSP00000307599.3:p.Gln866Arg
ENST00000668754.1:c.2597A>G	ENSP00000499569.1:p.Gln866Arg
ENST00000675223.1:c.2597A>G	ENSP00000502481.1:p.Gln866Arg
ENST00000675672.1:c.2597A>G	ENSP00000502446.1:p.Gln866Arg
ENST00000675892.1:c.2417A>G	ENSP00000502318.1:p.Gln806Arg
ENST00000676045.1:c.2641A>G	ENSP00000501685.1:n.2641A>G
ENST00000676176.1:c.2216A>G	ENSP00000501891.1:p.Gln739Arg
ENST00000302328.7:c.2597A>G	ENSP00000307599.3:p.Gln866Arg
ENST00000444237.2:c.2597A>G	ENSP00000408028.2:p.Gln866Arg
ENST00000456224.7:c.2597A>G	ENSP00000416757.3:p.Gln866Arg
NM_001287223.1:c.2597A>G	NP_001274152.1:p.Gln866Arg
NM_014139.2:c.2597A>G	NP_054858.2:p.Gln866Arg
XM_011533320.1:c.2597A>G	XP_011531622.1:p.Gln866Arg
XM_011533321.1:c.1934A>G	XP_011531623.1:p.Gln645Arg
XM_011533322.1:c.1145A>G	XP_011531624.1:p.Gln382Arg
NM_001349253.1:c.2597A>G	NP_001336182.1:p.Gln866Arg
XM_011533321.2:c.1934A>G	XP_011531623.1:p.Gln645Arg
XM_017005647.1:c.2972A>G	XP_016861136.1:p.Gln991Arg
XM_017005648.1:c.2399A>G	XP_016861137.1:p.Gln800Arg
XM_017005650.1:c.2597A>G	XP_016861139.1:p.Gln866Arg
XM_017005651.1:c.2324A>G	XP_016861140.1:p.Gln775Arg
XM_017005652.1:c.2597A>G	XP_016861141.1:p.Gln866Arg
XM_017005653.1:c.1001A>G	XP_016861142.1:p.Gln334Arg
NM_001349253.2:c.2597A>G MANE Select	NP_001336182.1:p.Gln866Arg
NM_014139.3:c.2597A>G	NP_054858.2:p.Gln866Arg