Canonical Allele Identifier: CA352161303

Gene: SCN11A

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38846983C>T , CM000665.2:g.38846983C>T	GRCh38
NC_000003.11:g.38888474C>T , CM000665.1:g.38888474C>T	GRCh37
NC_000003.10:g.38863478C>T	NCBI36
NG_033859.1:g.108579G>A
NG_033859.2:g.210004G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001349253.2:c.5087G>A MANE Select	NP_001336182.1:p.Gly1696Asp
ENST00000302328.9:c.5087G>A MANE Select	ENSP00000307599.3:p.Gly1696Asp
NM_001287223.1:c.5087G>A	NP_001274152.1:p.Gly1696Asp
NM_001349253.1:c.5087G>A	NP_001336182.1:p.Gly1696Asp
NM_014139.2:c.5087G>A	NP_054858.2:p.Gly1696Asp
NM_014139.3:c.5087G>A	NP_054858.2:p.Gly1696Asp
ENST00000302328.7:c.5087G>A	ENSP00000307599.3:p.Gly1696Asp
ENST00000456224.7:c.4973G>A	ENSP00000416757.3:p.Gly1658Asp
ENST00000668754.1:c.5087G>A	ENSP00000499569.1:p.Gly1696Asp
ENST00000675223.1:c.5166G>A	ENSP00000502481.1:n.5166G>A
ENST00000675672.1:c.5141G>A	ENSP00000502446.1:n.5141G>A
ENST00000675892.1:c.4907G>A	ENSP00000502318.1:p.Gly1636Asp
ENST00000676045.1:c.5131G>A	ENSP00000501685.1:n.5131G>A
ENST00000676176.1:c.4706G>A	ENSP00000501891.1:p.Gly1569Asp
XM_011533320.1:c.5087G>A	XP_011531622.1:p.Gly1696Asp
XM_011533321.1:c.4424G>A	XP_011531623.1:p.Gly1475Asp
XM_011533321.2:c.4424G>A	XP_011531623.1:p.Gly1475Asp
XM_011533322.1:c.3635G>A	XP_011531624.1:p.Gly1212Asp
XM_017005647.1:c.5462G>A	XP_016861136.1:p.Gly1821Asp
XM_017005648.1:c.4889G>A	XP_016861137.1:p.Gly1630Asp
XM_017005650.1:c.5087G>A	XP_016861139.1:p.Gly1696Asp
XM_017005651.1:c.4814G>A	XP_016861140.1:p.Gly1605Asp
XM_017005653.1:c.3491G>A	XP_016861142.1:p.Gly1164Asp