Canonical Allele Identifier: CA349016016

Gene: SCN3A

Linked Data

• ClinVar Variation Id: 521063
• ClinVar RCV Id: RCV000622981 ; RCV000625714 ; RCV003992349
• dbSNP Id: rs1553517274
• MyVariant Identifiers: chr2:g.165947357A>G (hg19) ; chr2:g.165090847A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.165090847A>G , CM000664.2:g.165090847A>G	GRCh38
NC_000002.11:g.165947357A>G , CM000664.1:g.165947357A>G	GRCh37
NC_000002.10:g.165655603A>G	NCBI36
NG_042289.1:g.118242T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706067.1:c.5255T>C	ENSP00000516211.1:p.Val1752Ala
ENST00000283254.12:c.5306T>C MANE Select	ENSP00000283254.7:p.Val1769Ala
ENST00000638473.1:c.*3147T>C	ENSP00000491552.1:n.*3147T>C
ENST00000639244.1:c.5243T>C	ENSP00000492251.1:p.Val1748Ala
ENST00000640652.1:c.*2040T>C	ENSP00000492807.1:n.*2040T>C
ENST00000658209.1:c.3515T>C	ENSP00000499598.1:n.3515T>C
ENST00000283254.11:c.5306T>C	ENSP00000283254.7:p.Val1769Ala
ENST00000360093.7:c.5306T>C	ENSP00000353206.3:p.Val1769Ala
ENST00000409101.7:c.5159T>C	ENSP00000386726.3:p.Val1720Ala
NM_001081676.1:c.5159T>C	NP_001075145.1:p.Val1720Ala
NM_001081677.1:c.5159T>C	NP_001075146.1:p.Val1720Ala
NM_006922.3:c.5306T>C	NP_008853.3:p.Val1769Ala
XM_006712679.1:c.5306T>C	XP_006712742.1:p.Val1769Ala
XM_011511610.1:c.5306T>C	XP_011509912.1:p.Val1769Ala
XM_011511611.1:c.5306T>C	XP_011509913.1:p.Val1769Ala
XM_011511612.1:c.5255T>C	XP_011509914.1:p.Val1752Ala
XM_011511613.1:c.3416T>C	XP_011509915.1:p.Val1139Ala
XM_011511610.3:c.5306T>C	XP_011509912.1:p.Val1769Ala
XM_011511613.3:c.3416T>C	XP_011509915.1:p.Val1139Ala
XM_017004660.2:c.5306T>C	XP_016860149.1:p.Val1769Ala
XM_017004661.2:c.5255T>C	XP_016860150.1:p.Val1752Ala
XM_017004662.2:c.5168T>C	XP_016860151.1:p.Val1723Ala
XM_017004663.2:c.3416T>C	XP_016860152.1:p.Val1139Ala
NM_006922.4:c.5306T>C MANE Select	NP_008853.3:p.Val1769Ala
NM_001081676.2:c.5159T>C	NP_001075145.1:p.Val1720Ala
NM_001081677.2:c.5159T>C	NP_001075146.1:p.Val1720Ala