Canonical Allele Identifier: CA352171297

Gene: SCN11A

Linked Data

• MyVariant Identifiers: chr3:g.38913706A>C (hg19) ; chr3:g.38872215A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38872215A>C , CM000665.2:g.38872215A>C	GRCh38
NC_000003.11:g.38913706A>C , CM000665.1:g.38913706A>C	GRCh37
NC_000003.10:g.38888710A>C	NCBI36
NG_033859.1:g.83347T>G
NG_033859.2:g.184772T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000302328.9:c.3473T>G MANE Select	ENSP00000307599.3:p.Leu1158Arg
ENST00000668754.1:c.3473T>G	ENSP00000499569.1:p.Leu1158Arg
ENST00000675223.1:c.3473T>G	ENSP00000502481.1:p.Leu1158Arg
ENST00000675672.1:c.3527T>G	ENSP00000502446.1:n.3527T>G
ENST00000675892.1:c.3293T>G	ENSP00000502318.1:p.Leu1098Arg
ENST00000676045.1:c.3517T>G	ENSP00000501685.1:n.3517T>G
ENST00000676176.1:c.3092T>G	ENSP00000501891.1:p.Leu1031Arg
ENST00000302328.7:c.3473T>G	ENSP00000307599.3:p.Leu1158Arg
ENST00000444237.2:c.3473T>G	ENSP00000408028.2:p.Leu1158Arg
ENST00000456224.7:c.3359T>G	ENSP00000416757.3:p.Leu1120Arg
NM_001287223.1:c.3473T>G	NP_001274152.1:p.Leu1158Arg
NM_014139.2:c.3473T>G	NP_054858.2:p.Leu1158Arg
XM_011533320.1:c.3473T>G	XP_011531622.1:p.Leu1158Arg
XM_011533321.1:c.2810T>G	XP_011531623.1:p.Leu937Arg
XM_011533322.1:c.2021T>G	XP_011531624.1:p.Leu674Arg
NM_001349253.1:c.3473T>G	NP_001336182.1:p.Leu1158Arg
XM_011533321.2:c.2810T>G	XP_011531623.1:p.Leu937Arg
XM_017005647.1:c.3848T>G	XP_016861136.1:p.Leu1283Arg
XM_017005648.1:c.3275T>G	XP_016861137.1:p.Leu1092Arg
XM_017005650.1:c.3473T>G	XP_016861139.1:p.Leu1158Arg
XM_017005651.1:c.3200T>G	XP_016861140.1:p.Leu1067Arg
XM_017005652.1:c.3473T>G	XP_016861141.1:p.Leu1158Arg
XM_017005653.1:c.1877T>G	XP_016861142.1:p.Leu626Arg
NM_001349253.2:c.3473T>G MANE Select	NP_001336182.1:p.Leu1158Arg
NM_014139.3:c.3473T>G	NP_054858.2:p.Leu1158Arg