Canonical Allele Identifier: CA349026044

Gene: SCN3A

Linked Data

• ClinVar Variation Id: 2702207
• ClinVar RCV Id: RCV003577251
• MyVariant Identifiers: chr2:g.165954015A>G (hg19) ; chr2:g.165097505A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.165097505A>G , CM000664.2:g.165097505A>G	GRCh38
NC_000002.11:g.165954015A>G , CM000664.1:g.165954015A>G	GRCh37
NC_000002.10:g.165662261A>G	NCBI36
NG_042289.1:g.111584T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706067.1:c.3935T>C	ENSP00000516211.1:p.Val1312Ala
ENST00000283254.12:c.3986T>C MANE Select	ENSP00000283254.7:p.Val1329Ala
ENST00000638473.1:c.*1827T>C	ENSP00000491552.1:n.*1827T>C
ENST00000639244.1:c.3935T>C	ENSP00000492251.1:p.Val1312Ala
ENST00000640652.1:c.*720T>C	ENSP00000492807.1:n.*720T>C
ENST00000658209.1:c.2195T>C	ENSP00000499598.1:n.2195T>C
ENST00000283254.11:c.3986T>C	ENSP00000283254.7:p.Val1329Ala
ENST00000360093.7:c.3986T>C	ENSP00000353206.3:p.Val1329Ala
ENST00000409101.7:c.3839T>C	ENSP00000386726.3:p.Val1280Ala
ENST00000440431.6:c.3839T>C	ENSP00000403348.1:p.Val1280Ala
ENST00000471697.1:n.110T>C
NM_001081676.1:c.3839T>C	NP_001075145.1:p.Val1280Ala
NM_001081677.1:c.3839T>C	NP_001075146.1:p.Val1280Ala
NM_006922.3:c.3986T>C	NP_008853.3:p.Val1329Ala
XM_006712679.1:c.3986T>C	XP_006712742.1:p.Val1329Ala
XM_011511610.1:c.3986T>C	XP_011509912.1:p.Val1329Ala
XM_011511611.1:c.3986T>C	XP_011509913.1:p.Val1329Ala
XM_011511612.1:c.3935T>C	XP_011509914.1:p.Val1312Ala
XM_011511613.1:c.2096T>C	XP_011509915.1:p.Val699Ala
XM_011511610.3:c.3986T>C	XP_011509912.1:p.Val1329Ala
XM_011511613.3:c.2096T>C	XP_011509915.1:p.Val699Ala
XM_017004660.2:c.3986T>C	XP_016860149.1:p.Val1329Ala
XM_017004661.2:c.3935T>C	XP_016860150.1:p.Val1312Ala
XM_017004662.2:c.3848T>C	XP_016860151.1:p.Val1283Ala
XM_017004663.2:c.2096T>C	XP_016860152.1:p.Val699Ala
NM_006922.4:c.3986T>C MANE Select	NP_008853.3:p.Val1329Ala
NM_001081676.2:c.3839T>C	NP_001075145.1:p.Val1280Ala
NM_001081677.2:c.3839T>C	NP_001075146.1:p.Val1280Ala