Canonical Allele Identifier: CA1047019810

Gene: SCN11A

Linked Data

• dbSNP Id: rs2065855229
• gnomAD v3: 3-38909489-G-A
• gnomAD v4: 3-38909489-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38909489G>A , CM000665.2:g.38909489G>A	GRCh38
NC_000003.11:g.38950980G>A , CM000665.1:g.38950980G>A	GRCh37
NC_000003.10:g.38925984G>A	NCBI36
NG_033859.1:g.46073C>T
NG_033859.2:g.147498C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302328.9:c.1102-295C>T MANE Select	ENSP00000307599.3:n.1102-295C>T
ENST00000668754.1:c.1102-295C>T	ENSP00000499569.1:n.1102-295C>T
ENST00000675223.1:c.1102-295C>T	ENSP00000502481.1:n.1102-295C>T
ENST00000675672.1:c.1102-295C>T	ENSP00000502446.1:n.1102-295C>T
ENST00000675892.1:c.922-295C>T	ENSP00000502318.1:n.922-295C>T
ENST00000676045.1:c.1146-295C>T	ENSP00000501685.1:n.1146-295C>T
ENST00000676176.1:c.1102-295C>T	ENSP00000501891.1:n.1102-295C>T
ENST00000302328.7:c.1102-295C>T	ENSP00000307599.3:n.1102-295C>T
ENST00000444237.2:c.1102-295C>T	ENSP00000408028.2:n.1102-295C>T
ENST00000456224.7:c.1102-295C>T	ENSP00000416757.3:n.1102-295C>T
NM_001287223.1:c.1102-295C>T	NP_001274152.1:n.1102-295C>T
NM_014139.2:c.1102-295C>T	NP_054858.2:n.1102-295C>T
XM_011533320.1:c.1102-295C>T	XP_011531622.1:n.1102-295C>T
XM_011533321.1:c.439-295C>T	XP_011531623.1:n.439-295C>T
NM_001349253.1:c.1102-295C>T	NP_001336182.1:n.1102-295C>T
XM_011533321.2:c.439-295C>T	XP_011531623.1:n.439-295C>T
XM_017005647.1:c.1477-295C>T	XP_016861136.1:n.1477-295C>T
XM_017005648.1:c.1101+577C>T	XP_016861137.1:n.1101+577C>T
XM_017005650.1:c.1102-295C>T	XP_016861139.1:n.1102-295C>T
XM_017005651.1:c.829-295C>T	XP_016861140.1:n.829-295C>T
XM_017005652.1:c.1102-295C>T	XP_016861141.1:n.1102-295C>T
NM_001349253.2:c.1102-295C>T MANE Select	NP_001336182.1:n.1102-295C>T
NM_014139.3:c.1102-295C>T	NP_054858.2:n.1102-295C>T