Canonical Allele Identifier: CA1358731555

Gene: SCN11A

Linked Data

• dbSNP Id: rs2066121962

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38925373C>A , CM000665.2:g.38925373C>A	GRCh38
NC_000003.11:g.38966864C>A , CM000665.1:g.38966864C>A	GRCh37
NC_000003.10:g.38941868C>A	NCBI36
NG_033859.1:g.30189G>T
NG_033859.2:g.131614G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302328.9:c.712+42G>T MANE Select	ENSP00000307599.3:n.712+42G>T
ENST00000668754.1:c.712+42G>T	ENSP00000499569.1:n.712+42G>T
ENST00000675223.1:c.712+42G>T	ENSP00000502481.1:n.712+42G>T
ENST00000675672.1:c.712+42G>T	ENSP00000502446.1:n.712+42G>T
ENST00000675892.1:c.712+42G>T	ENSP00000502318.1:n.712+42G>T
ENST00000676045.1:c.756+42G>T	ENSP00000501685.1:n.756+42G>T
ENST00000676176.1:c.712+42G>T	ENSP00000501891.1:n.712+42G>T
ENST00000302328.7:c.712+42G>T	ENSP00000307599.3:n.712+42G>T
ENST00000444237.2:c.712+42G>T	ENSP00000408028.2:n.712+42G>T
ENST00000456224.7:c.712+42G>T	ENSP00000416757.3:n.712+42G>T
NM_001287223.1:c.712+42G>T	NP_001274152.1:n.712+42G>T
NM_014139.2:c.712+42G>T	NP_054858.2:n.712+42G>T
XM_011533320.1:c.712+42G>T	XP_011531622.1:n.712+42G>T
XM_011533321.1:c.131+42G>T	XP_011531623.1:n.131+42G>T
NM_001349253.1:c.712+42G>T	NP_001336182.1:n.712+42G>T
XM_011533321.2:c.131+42G>T	XP_011531623.1:n.131+42G>T
XM_017005647.1:c.1087+42G>T	XP_016861136.1:n.1087+42G>T
XM_017005648.1:c.712+42G>T	XP_016861137.1:n.712+42G>T
XM_017005650.1:c.712+42G>T	XP_016861139.1:n.712+42G>T
XM_017005651.1:c.439+42G>T	XP_016861140.1:n.439+42G>T
XM_017005652.1:c.712+42G>T	XP_016861141.1:n.712+42G>T
NM_001349253.2:c.712+42G>T MANE Select	NP_001336182.1:n.712+42G>T
NM_014139.3:c.712+42G>T	NP_054858.2:n.712+42G>T