Canonical Allele Identifier: CA349025325

Gene: SCN3A

Linked Data

• ClinVar Variation Id: 2651479
• ClinVar RCV Id: RCV003429338 ; RCV003992770
• dbSNP Id: rs1685405207
• MyVariant Identifiers: chr2:g.165953833G>C (hg19) ; chr2:g.165097323G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.165097323G>C , CM000664.2:g.165097323G>C	GRCh38
NC_000002.11:g.165953833G>C , CM000664.1:g.165953833G>C	GRCh37
NC_000002.10:g.165662079G>C	NCBI36
NG_042289.1:g.111766C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706067.1:c.4117C>G	ENSP00000516211.1:p.Gln1373Glu
ENST00000283254.12:c.4168C>G MANE Select	ENSP00000283254.7:p.Gln1390Glu
ENST00000638473.1:c.*2009C>G	ENSP00000491552.1:n.*2009C>G
ENST00000639244.1:c.4117C>G	ENSP00000492251.1:p.Gln1373Glu
ENST00000640652.1:c.*902C>G	ENSP00000492807.1:n.*902C>G
ENST00000658209.1:c.2377C>G	ENSP00000499598.1:n.2377C>G
ENST00000283254.11:c.4168C>G	ENSP00000283254.7:p.Gln1390Glu
ENST00000360093.7:c.4168C>G	ENSP00000353206.3:p.Gln1390Glu
ENST00000409101.7:c.4021C>G	ENSP00000386726.3:p.Gln1341Glu
ENST00000440431.6:c.4021C>G	ENSP00000403348.1:p.Gln1341Glu
ENST00000471697.1:n.292C>G
NM_001081676.1:c.4021C>G	NP_001075145.1:p.Gln1341Glu
NM_001081677.1:c.4021C>G	NP_001075146.1:p.Gln1341Glu
NM_006922.3:c.4168C>G	NP_008853.3:p.Gln1390Glu
XM_006712679.1:c.4168C>G	XP_006712742.1:p.Gln1390Glu
XM_011511610.1:c.4168C>G	XP_011509912.1:p.Gln1390Glu
XM_011511611.1:c.4168C>G	XP_011509913.1:p.Gln1390Glu
XM_011511612.1:c.4117C>G	XP_011509914.1:p.Gln1373Glu
XM_011511613.1:c.2278C>G	XP_011509915.1:p.Gln760Glu
XM_011511610.3:c.4168C>G	XP_011509912.1:p.Gln1390Glu
XM_011511613.3:c.2278C>G	XP_011509915.1:p.Gln760Glu
XM_017004660.2:c.4168C>G	XP_016860149.1:p.Gln1390Glu
XM_017004661.2:c.4117C>G	XP_016860150.1:p.Gln1373Glu
XM_017004662.2:c.4030C>G	XP_016860151.1:p.Gln1344Glu
XM_017004663.2:c.2278C>G	XP_016860152.1:p.Gln760Glu
NM_006922.4:c.4168C>G MANE Select	NP_008853.3:p.Gln1390Glu
NM_001081676.2:c.4021C>G	NP_001075145.1:p.Gln1341Glu
NM_001081677.2:c.4021C>G	NP_001075146.1:p.Gln1341Glu