Canonical Allele Identifier: CA433336250

Gene: SCN11A

Linked Data

• MyVariant Identifiers: chr3:g.38936444G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38894953G>C , CM000665.2:g.38894953G>C	GRCh38
NC_000003.11:g.38936444G>C , CM000665.1:g.38936444G>C	GRCh37
NC_000003.10:g.38911448G>C	NCBI36
NG_033859.1:g.60609C>G
NG_033859.2:g.162034C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000302328.9:c.2415C>G MANE Select	ENSP00000307599.3:p.Leu805=
ENST00000668754.1:c.2415C>G	ENSP00000499569.1:p.Leu805=
ENST00000675223.1:c.2415C>G	ENSP00000502481.1:p.Leu805=
ENST00000675672.1:c.2415C>G	ENSP00000502446.1:p.Leu805=
ENST00000675892.1:c.2235C>G	ENSP00000502318.1:p.Leu745=
ENST00000676045.1:c.2459C>G	ENSP00000501685.1:n.2459C>G
ENST00000676176.1:c.2034C>G	ENSP00000501891.1:p.Leu678=
ENST00000302328.7:c.2415C>G	ENSP00000307599.3:p.Leu805=
ENST00000444237.2:c.2415C>G	ENSP00000408028.2:p.Leu805=
ENST00000456224.7:c.2415C>G	ENSP00000416757.3:p.Leu805=
NM_001287223.1:c.2415C>G	NP_001274152.1:p.Leu805=
NM_014139.2:c.2415C>G	NP_054858.2:p.Leu805=
XM_011533320.1:c.2415C>G	XP_011531622.1:p.Leu805=
XM_011533321.1:c.1752C>G	XP_011531623.1:p.Leu584=
XM_011533322.1:c.963C>G	XP_011531624.1:p.Leu321=
NM_001349253.1:c.2415C>G	NP_001336182.1:p.Leu805=
XM_011533321.2:c.1752C>G	XP_011531623.1:p.Leu584=
XM_017005647.1:c.2790C>G	XP_016861136.1:p.Leu930=
XM_017005648.1:c.2217C>G	XP_016861137.1:p.Leu739=
XM_017005650.1:c.2415C>G	XP_016861139.1:p.Leu805=
XM_017005651.1:c.2142C>G	XP_016861140.1:p.Leu714=
XM_017005652.1:c.2415C>G	XP_016861141.1:p.Leu805=
XM_017005653.1:c.819C>G	XP_016861142.1:p.Leu273=
NM_001349253.2:c.2415C>G MANE Select	NP_001336182.1:p.Leu805=
NM_014139.3:c.2415C>G	NP_054858.2:p.Leu805=