Canonical Allele Identifier: CA2321402

Gene: SCN11A

Linked Data

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38846986C>T , CM000665.2:g.38846986C>T	GRCh38
NC_000003.11:g.38888477C>T , CM000665.1:g.38888477C>T	GRCh37
NC_000003.10:g.38863481C>T	NCBI36
NG_033859.1:g.108576G>A
NG_033859.2:g.210001G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302328.9:c.5084G>A MANE Select	ENSP00000307599.3:p.Gly1695Asp
ENST00000668754.1:c.5084G>A	ENSP00000499569.1:p.Gly1695Asp
ENST00000675223.1:c.5163G>A	ENSP00000502481.1:n.5163G>A
ENST00000675672.1:c.5138G>A	ENSP00000502446.1:n.5138G>A
ENST00000675892.1:c.4904G>A	ENSP00000502318.1:p.Gly1635Asp
ENST00000676045.1:c.5128G>A	ENSP00000501685.1:n.5128G>A
ENST00000676176.1:c.4703G>A	ENSP00000501891.1:p.Gly1568Asp
ENST00000302328.7:c.5084G>A	ENSP00000307599.3:p.Gly1695Asp
ENST00000456224.7:c.4970G>A	ENSP00000416757.3:p.Gly1657Asp
NM_001287223.1:c.5084G>A	NP_001274152.1:p.Gly1695Asp
NM_014139.2:c.5084G>A	NP_054858.2:p.Gly1695Asp
XM_011533320.1:c.5084G>A	XP_011531622.1:p.Gly1695Asp
XM_011533321.1:c.4421G>A	XP_011531623.1:p.Gly1474Asp
XM_011533322.1:c.3632G>A	XP_011531624.1:p.Gly1211Asp
NM_001349253.1:c.5084G>A	NP_001336182.1:p.Gly1695Asp
XM_011533321.2:c.4421G>A	XP_011531623.1:p.Gly1474Asp
XM_017005647.1:c.5459G>A	XP_016861136.1:p.Gly1820Asp
XM_017005648.1:c.4886G>A	XP_016861137.1:p.Gly1629Asp
XM_017005650.1:c.5084G>A	XP_016861139.1:p.Gly1695Asp
XM_017005651.1:c.4811G>A	XP_016861140.1:p.Gly1604Asp
XM_017005653.1:c.3488G>A	XP_016861142.1:p.Gly1163Asp
NM_001349253.2:c.5084G>A MANE Select	NP_001336182.1:p.Gly1695Asp
NM_014139.3:c.5084G>A	NP_054858.2:p.Gly1695Asp