Canonical Allele Identifier: CA352163551

Gene: SCN11A

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38847541A>G , CM000665.2:g.38847541A>G	GRCh38
NC_000003.11:g.38889032A>G , CM000665.1:g.38889032A>G	GRCh37
NC_000003.10:g.38864036A>G	NCBI36
NG_033859.1:g.108021T>C
NG_033859.2:g.209446T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001349253.2:c.4529T>C MANE Select	NP_001336182.1:p.Ile1510Thr
ENST00000302328.9:c.4529T>C MANE Select	ENSP00000307599.3:p.Ile1510Thr
NM_001287223.1:c.4529T>C	NP_001274152.1:p.Ile1510Thr
NM_001349253.1:c.4529T>C	NP_001336182.1:p.Ile1510Thr
NM_014139.2:c.4529T>C	NP_054858.2:p.Ile1510Thr
NM_014139.3:c.4529T>C	NP_054858.2:p.Ile1510Thr
ENST00000302328.7:c.4529T>C	ENSP00000307599.3:p.Ile1510Thr
ENST00000456224.7:c.4415T>C	ENSP00000416757.3:p.Ile1472Thr
ENST00000668754.1:c.4529T>C	ENSP00000499569.1:p.Ile1510Thr
ENST00000675223.1:c.4608T>C	ENSP00000502481.1:n.4608T>C
ENST00000675672.1:c.4583T>C	ENSP00000502446.1:n.4583T>C
ENST00000675892.1:c.4349T>C	ENSP00000502318.1:p.Ile1450Thr
ENST00000676045.1:c.4573T>C	ENSP00000501685.1:n.4573T>C
ENST00000676176.1:c.4148T>C	ENSP00000501891.1:p.Ile1383Thr
XM_011533320.1:c.4529T>C	XP_011531622.1:p.Ile1510Thr
XM_011533321.1:c.3866T>C	XP_011531623.1:p.Ile1289Thr
XM_011533321.2:c.3866T>C	XP_011531623.1:p.Ile1289Thr
XM_011533322.1:c.3077T>C	XP_011531624.1:p.Ile1026Thr
XM_017005647.1:c.4904T>C	XP_016861136.1:p.Ile1635Thr
XM_017005648.1:c.4331T>C	XP_016861137.1:p.Ile1444Thr
XM_017005650.1:c.4529T>C	XP_016861139.1:p.Ile1510Thr
XM_017005651.1:c.4256T>C	XP_016861140.1:p.Ile1419Thr
XM_017005653.1:c.2933T>C	XP_016861142.1:p.Ile978Thr