Canonical Allele Identifier: CA72990528

Gene: SCN11A

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38885203T>C , CM000665.2:g.38885203T>C	GRCh38
NC_000003.11:g.38926694T>C , CM000665.1:g.38926694T>C	GRCh37
NC_000003.10:g.38901698T>C	NCBI36
NG_033859.1:g.70359A>G
NG_033859.2:g.171784A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001349253.2:c.3064+85A>G MANE Select	NP_001336182.1:n.3064+85A>G
ENST00000302328.9:c.3064+85A>G MANE Select	ENSP00000307599.3:n.3064+85A>G
NM_001287223.1:c.3064+85A>G	NP_001274152.1:n.3064+85A>G
NM_001349253.1:c.3064+85A>G	NP_001336182.1:n.3064+85A>G
NM_014139.2:c.3064+85A>G	NP_054858.2:n.3064+85A>G
NM_014139.3:c.3064+85A>G	NP_054858.2:n.3064+85A>G
ENST00000302328.7:c.3064+85A>G	ENSP00000307599.3:n.3064+85A>G
ENST00000444237.2:c.3064+85A>G	ENSP00000408028.2:n.3064+85A>G
ENST00000456224.7:c.2950+85A>G	ENSP00000416757.3:n.2950+85A>G
ENST00000668754.1:c.3064+85A>G	ENSP00000499569.1:n.3064+85A>G
ENST00000675223.1:c.3064+85A>G	ENSP00000502481.1:n.3064+85A>G
ENST00000675672.1:c.3118+85A>G	ENSP00000502446.1:n.3118+85A>G
ENST00000675892.1:c.2884+85A>G	ENSP00000502318.1:n.2884+85A>G
ENST00000676045.1:c.3108+85A>G	ENSP00000501685.1:n.3108+85A>G
ENST00000676176.1:c.2683+85A>G	ENSP00000501891.1:n.2683+85A>G
XM_011533320.1:c.3064+85A>G	XP_011531622.1:n.3064+85A>G
XM_011533321.1:c.2401+85A>G	XP_011531623.1:n.2401+85A>G
XM_011533321.2:c.2401+85A>G	XP_011531623.1:n.2401+85A>G
XM_011533322.1:c.1612+85A>G	XP_011531624.1:n.1612+85A>G
XM_017005647.1:c.3439+85A>G	XP_016861136.1:n.3439+85A>G
XM_017005648.1:c.2866+85A>G	XP_016861137.1:n.2866+85A>G
XM_017005650.1:c.3064+85A>G	XP_016861139.1:n.3064+85A>G
XM_017005651.1:c.2791+85A>G	XP_016861140.1:n.2791+85A>G
XM_017005652.1:c.3064+85A>G	XP_016861141.1:n.3064+85A>G
XM_017005653.1:c.1468+85A>G	XP_016861142.1:n.1468+85A>G