Canonical Allele Identifier: CA349025007

Gene: SCN3A

Linked Data

• ClinVar Variation Id: 1001231
• ClinVar RCV Id: RCV001297493
• dbSNP Id: rs1685403396
• MyVariant Identifiers: chr2:g.165953797T>C (hg19) ; chr2:g.165097287T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.165097287T>C , CM000664.2:g.165097287T>C	GRCh38
NC_000002.11:g.165953797T>C , CM000664.1:g.165953797T>C	GRCh37
NC_000002.10:g.165662043T>C	NCBI36
NG_042289.1:g.111802A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000706067.1:c.4153A>G	ENSP00000516211.1:p.Asn1385Asp
ENST00000283254.12:c.4204A>G MANE Select	ENSP00000283254.7:p.Asn1402Asp
ENST00000638473.1:c.*2045A>G	ENSP00000491552.1:n.*2045A>G
ENST00000639244.1:c.4153A>G	ENSP00000492251.1:p.Asn1385Asp
ENST00000640652.1:c.*938A>G	ENSP00000492807.1:n.*938A>G
ENST00000658209.1:c.2413A>G	ENSP00000499598.1:n.2413A>G
ENST00000283254.11:c.4204A>G	ENSP00000283254.7:p.Asn1402Asp
ENST00000360093.7:c.4204A>G	ENSP00000353206.3:p.Asn1402Asp
ENST00000409101.7:c.4057A>G	ENSP00000386726.3:p.Asn1353Asp
ENST00000440431.6:c.4057A>G	ENSP00000403348.1:p.Asn1353Asp
ENST00000471697.1:n.328A>G
NM_001081676.1:c.4057A>G	NP_001075145.1:p.Asn1353Asp
NM_001081677.1:c.4057A>G	NP_001075146.1:p.Asn1353Asp
NM_006922.3:c.4204A>G	NP_008853.3:p.Asn1402Asp
XM_006712679.1:c.4204A>G	XP_006712742.1:p.Asn1402Asp
XM_011511610.1:c.4204A>G	XP_011509912.1:p.Asn1402Asp
XM_011511611.1:c.4204A>G	XP_011509913.1:p.Asn1402Asp
XM_011511612.1:c.4153A>G	XP_011509914.1:p.Asn1385Asp
XM_011511613.1:c.2314A>G	XP_011509915.1:p.Asn772Asp
XM_011511610.3:c.4204A>G	XP_011509912.1:p.Asn1402Asp
XM_011511613.3:c.2314A>G	XP_011509915.1:p.Asn772Asp
XM_017004660.2:c.4204A>G	XP_016860149.1:p.Asn1402Asp
XM_017004661.2:c.4153A>G	XP_016860150.1:p.Asn1385Asp
XM_017004662.2:c.4066A>G	XP_016860151.1:p.Asn1356Asp
XM_017004663.2:c.2314A>G	XP_016860152.1:p.Asn772Asp
NM_006922.4:c.4204A>G MANE Select	NP_008853.3:p.Asn1402Asp
NM_001081676.2:c.4057A>G	NP_001075145.1:p.Asn1353Asp
NM_001081677.2:c.4057A>G	NP_001075146.1:p.Asn1353Asp