Canonical Allele Identifier: CA2321734

Gene: SCN11A

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38871480T>C , CM000665.2:g.38871480T>C	GRCh38
NC_000003.11:g.38912971T>C , CM000665.1:g.38912971T>C	GRCh37
NC_000003.10:g.38887975T>C	NCBI36
NG_033859.1:g.84082A>G
NG_033859.2:g.185507A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001349253.2:c.3724A>G MANE Select	NP_001336182.1:p.Asn1242Asp
ENST00000302328.9:c.3724A>G MANE Select	ENSP00000307599.3:p.Asn1242Asp
NM_001287223.1:c.3724A>G	NP_001274152.1:p.Asn1242Asp
NM_001349253.1:c.3724A>G	NP_001336182.1:p.Asn1242Asp
NM_014139.2:c.3724A>G	NP_054858.2:p.Asn1242Asp
NM_014139.3:c.3724A>G	NP_054858.2:p.Asn1242Asp
ENST00000302328.7:c.3724A>G	ENSP00000307599.3:p.Asn1242Asp
ENST00000444237.2:c.3724A>G	ENSP00000408028.2:p.Asn1242Asp
ENST00000456224.7:c.3610A>G	ENSP00000416757.3:p.Asn1204Asp
ENST00000668754.1:c.3724A>G	ENSP00000499569.1:p.Asn1242Asp
ENST00000675223.1:c.3724A>G	ENSP00000502481.1:p.Asn1242Asp
ENST00000675672.1:c.3778A>G	ENSP00000502446.1:n.3778A>G
ENST00000675892.1:c.3544A>G	ENSP00000502318.1:p.Asn1182Asp
ENST00000676045.1:c.3768A>G	ENSP00000501685.1:n.3768A>G
ENST00000676176.1:c.3343A>G	ENSP00000501891.1:p.Asn1115Asp
XM_011533320.1:c.3724A>G	XP_011531622.1:p.Asn1242Asp
XM_011533321.1:c.3061A>G	XP_011531623.1:p.Asn1021Asp
XM_011533321.2:c.3061A>G	XP_011531623.1:p.Asn1021Asp
XM_011533322.1:c.2272A>G	XP_011531624.1:p.Asn758Asp
XM_017005647.1:c.4099A>G	XP_016861136.1:p.Asn1367Asp
XM_017005648.1:c.3526A>G	XP_016861137.1:p.Asn1176Asp
XM_017005650.1:c.3724A>G	XP_016861139.1:p.Asn1242Asp
XM_017005651.1:c.3451A>G	XP_016861140.1:p.Asn1151Asp
XM_017005652.1:c.3724A>G	XP_016861141.1:p.Asn1242Asp
XM_017005653.1:c.2128A>G	XP_016861142.1:p.Asn710Asp