Canonical Allele Identifier: CA429880807

Gene: SCN3A

Linked Data

• gnomAD v4: 2-165097288-A-G
• MyVariant Identifiers: chr2:g.165953798A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.165097288A>G , CM000664.2:g.165097288A>G	GRCh38
NC_000002.11:g.165953798A>G , CM000664.1:g.165953798A>G	GRCh37
NC_000002.10:g.165662044A>G	NCBI36
NG_042289.1:g.111801T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000706067.1:c.4152T>C	ENSP00000516211.1:p.Asp1384=
ENST00000283254.12:c.4203T>C MANE Select	ENSP00000283254.7:p.Asp1401=
ENST00000638473.1:c.*2044T>C	ENSP00000491552.1:n.*2044T>C
ENST00000639244.1:c.4152T>C	ENSP00000492251.1:p.Asp1384=
ENST00000640652.1:c.*937T>C	ENSP00000492807.1:n.*937T>C
ENST00000658209.1:c.2412T>C	ENSP00000499598.1:n.2412T>C
ENST00000283254.11:c.4203T>C	ENSP00000283254.7:p.Asp1401=
ENST00000360093.7:c.4203T>C	ENSP00000353206.3:p.Asp1401=
ENST00000409101.7:c.4056T>C	ENSP00000386726.3:p.Asp1352=
ENST00000440431.6:c.4056T>C	ENSP00000403348.1:p.Asp1352=
ENST00000471697.1:n.327T>C
NM_001081676.1:c.4056T>C	NP_001075145.1:p.Asp1352=
NM_001081677.1:c.4056T>C	NP_001075146.1:p.Asp1352=
NM_006922.3:c.4203T>C	NP_008853.3:p.Asp1401=
XM_006712679.1:c.4203T>C	XP_006712742.1:p.Asp1401=
XM_011511610.1:c.4203T>C	XP_011509912.1:p.Asp1401=
XM_011511611.1:c.4203T>C	XP_011509913.1:p.Asp1401=
XM_011511612.1:c.4152T>C	XP_011509914.1:p.Asp1384=
XM_011511613.1:c.2313T>C	XP_011509915.1:p.Asp771=
XM_011511610.3:c.4203T>C	XP_011509912.1:p.Asp1401=
XM_011511613.3:c.2313T>C	XP_011509915.1:p.Asp771=
XM_017004660.2:c.4203T>C	XP_016860149.1:p.Asp1401=
XM_017004661.2:c.4152T>C	XP_016860150.1:p.Asp1384=
XM_017004662.2:c.4065T>C	XP_016860151.1:p.Asp1355=
XM_017004663.2:c.2313T>C	XP_016860152.1:p.Asp771=
NM_006922.4:c.4203T>C MANE Select	NP_008853.3:p.Asp1401=
NM_001081676.2:c.4056T>C	NP_001075145.1:p.Asp1352=
NM_001081677.2:c.4056T>C	NP_001075146.1:p.Asp1352=