Canonical Allele Identifier: CA349035875

Gene: SCN3A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.165115543G>T , CM000664.2:g.165115543G>T	GRCh38
NC_000002.11:g.165972053G>T , CM000664.1:g.165972053G>T	GRCh37
NC_000002.10:g.165680299G>T	NCBI36
NG_042289.1:g.93546C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_006922.4:c.3426C>A MANE Select	NP_008853.3:p.Ser1142Arg
ENST00000283254.12:c.3426C>A MANE Select	ENSP00000283254.7:p.Ser1142Arg
NM_001081676.1:c.3279C>A	NP_001075145.1:p.Ser1093Arg
NM_001081676.2:c.3279C>A	NP_001075145.1:p.Ser1093Arg
NM_001081677.1:c.3279C>A	NP_001075146.1:p.Ser1093Arg
NM_001081677.2:c.3279C>A	NP_001075146.1:p.Ser1093Arg
NM_006922.3:c.3426C>A	NP_008853.3:p.Ser1142Arg
ENST00000283254.11:c.3426C>A	ENSP00000283254.7:p.Ser1142Arg
ENST00000360093.7:c.3426C>A	ENSP00000353206.3:p.Ser1142Arg
ENST00000409101.7:c.3279C>A	ENSP00000386726.3:p.Ser1093Arg
ENST00000440431.6:c.3279C>A	ENSP00000403348.1:p.Ser1093Arg
ENST00000638473.1:c.*1267C>A	ENSP00000491552.1:n.*1267C>A
ENST00000639244.1:c.3375C>A	ENSP00000492251.1:p.Ser1125Arg
ENST00000640652.1:c.*160C>A	ENSP00000492807.1:n.*160C>A
ENST00000658209.1:c.1635C>A	ENSP00000499598.1:n.1635C>A
ENST00000706067.1:c.3375C>A	ENSP00000516211.1:p.Ser1125Arg
XM_006712679.1:c.3426C>A	XP_006712742.1:p.Ser1142Arg
XM_011511610.1:c.3426C>A	XP_011509912.1:p.Ser1142Arg
XM_011511610.3:c.3426C>A	XP_011509912.1:p.Ser1142Arg
XM_011511611.1:c.3426C>A	XP_011509913.1:p.Ser1142Arg
XM_011511612.1:c.3375C>A	XP_011509914.1:p.Ser1125Arg
XM_011511613.1:c.1536C>A	XP_011509915.1:p.Ser512Arg
XM_011511613.3:c.1536C>A	XP_011509915.1:p.Ser512Arg
XM_017004660.2:c.3426C>A	XP_016860149.1:p.Ser1142Arg
XM_017004661.2:c.3375C>A	XP_016860150.1:p.Ser1125Arg
XM_017004662.2:c.3288C>A	XP_016860151.1:p.Ser1096Arg
XM_017004663.2:c.1536C>A	XP_016860152.1:p.Ser512Arg