Canonical Allele Identifier: CA349008781

Gene: SCN3A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.165090164C>A , CM000664.2:g.165090164C>A	GRCh38
NC_000002.11:g.165946674C>A , CM000664.1:g.165946674C>A	GRCh37
NC_000002.10:g.165654920C>A	NCBI36
NG_042289.1:g.118925G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_006922.4:c.5989G>T MANE Select	NP_008853.3:p.Glu1997Ter
ENST00000283254.12:c.5989G>T MANE Select	ENSP00000283254.7:p.Glu1997Ter
NM_001081676.1:c.5842G>T	NP_001075145.1:p.Glu1948Ter
NM_001081676.2:c.5842G>T	NP_001075145.1:p.Glu1948Ter
NM_001081677.1:c.5842G>T	NP_001075146.1:p.Glu1948Ter
NM_001081677.2:c.5842G>T	NP_001075146.1:p.Glu1948Ter
NM_006922.3:c.5989G>T	NP_008853.3:p.Glu1997Ter
ENST00000283254.11:c.5989G>T	ENSP00000283254.7:p.Glu1997Ter
ENST00000360093.7:c.5989G>T	ENSP00000353206.3:p.Glu1997Ter
ENST00000409101.7:c.5842G>T	ENSP00000386726.3:p.Glu1948Ter
ENST00000638473.1:c.*3830G>T	ENSP00000491552.1:n.*3830G>T
ENST00000639244.1:c.5926G>T	ENSP00000492251.1:p.Glu1976Ter
ENST00000640652.1:c.*2723G>T	ENSP00000492807.1:n.*2723G>T
ENST00000658209.1:c.4198G>T	ENSP00000499598.1:n.4198G>T
ENST00000706067.1:c.5938G>T	ENSP00000516211.1:p.Glu1980Ter
XM_006712679.1:c.5989G>T	XP_006712742.1:p.Glu1997Ter
XM_011511610.1:c.5989G>T	XP_011509912.1:p.Glu1997Ter
XM_011511610.3:c.5989G>T	XP_011509912.1:p.Glu1997Ter
XM_011511611.1:c.5989G>T	XP_011509913.1:p.Glu1997Ter
XM_011511612.1:c.5938G>T	XP_011509914.1:p.Glu1980Ter
XM_011511613.1:c.4099G>T	XP_011509915.1:p.Glu1367Ter
XM_011511613.3:c.4099G>T	XP_011509915.1:p.Glu1367Ter
XM_017004660.2:c.5989G>T	XP_016860149.1:p.Glu1997Ter
XM_017004661.2:c.5938G>T	XP_016860150.1:p.Glu1980Ter
XM_017004662.2:c.5851G>T	XP_016860151.1:p.Glu1951Ter
XM_017004663.2:c.4099G>T	XP_016860152.1:p.Glu1367Ter