Canonical Allele Identifier: CA16610166

Gene: SCN3A

Linked Data

• ClinVar Variation Id: 403865
• ClinVar RCV Id: RCV000465335 ; RCV003392265
• dbSNP Id: rs1060500003
• gnomAD v4: 2-165097502-C-T
• MyVariant Identifiers: chr2:g.165954012C>T (hg19) ; chr2:g.165097502C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.165097502C>T , CM000664.2:g.165097502C>T	GRCh38
NC_000002.11:g.165954012C>T , CM000664.1:g.165954012C>T	GRCh37
NC_000002.10:g.165662258C>T	NCBI36
NG_042289.1:g.111587G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706067.1:c.3938G>A	ENSP00000516211.1:p.Gly1313Glu
ENST00000283254.12:c.3989G>A MANE Select	ENSP00000283254.7:p.Gly1330Glu
ENST00000638473.1:c.*1830G>A	ENSP00000491552.1:n.*1830G>A
ENST00000639244.1:c.3938G>A	ENSP00000492251.1:p.Gly1313Glu
ENST00000640652.1:c.*723G>A	ENSP00000492807.1:n.*723G>A
ENST00000658209.1:c.2198G>A	ENSP00000499598.1:n.2198G>A
ENST00000283254.11:c.3989G>A	ENSP00000283254.7:p.Gly1330Glu
ENST00000360093.7:c.3989G>A	ENSP00000353206.3:p.Gly1330Glu
ENST00000409101.7:c.3842G>A	ENSP00000386726.3:p.Gly1281Glu
ENST00000440431.6:c.3842G>A	ENSP00000403348.1:p.Gly1281Glu
ENST00000471697.1:n.113G>A
NM_001081676.1:c.3842G>A	NP_001075145.1:p.Gly1281Glu
NM_001081677.1:c.3842G>A	NP_001075146.1:p.Gly1281Glu
NM_006922.3:c.3989G>A	NP_008853.3:p.Gly1330Glu
XM_006712679.1:c.3989G>A	XP_006712742.1:p.Gly1330Glu
XM_011511610.1:c.3989G>A	XP_011509912.1:p.Gly1330Glu
XM_011511611.1:c.3989G>A	XP_011509913.1:p.Gly1330Glu
XM_011511612.1:c.3938G>A	XP_011509914.1:p.Gly1313Glu
XM_011511613.1:c.2099G>A	XP_011509915.1:p.Gly700Glu
XM_011511610.3:c.3989G>A	XP_011509912.1:p.Gly1330Glu
XM_011511613.3:c.2099G>A	XP_011509915.1:p.Gly700Glu
XM_017004660.2:c.3989G>A	XP_016860149.1:p.Gly1330Glu
XM_017004661.2:c.3938G>A	XP_016860150.1:p.Gly1313Glu
XM_017004662.2:c.3851G>A	XP_016860151.1:p.Gly1284Glu
XM_017004663.2:c.2099G>A	XP_016860152.1:p.Gly700Glu
NM_006922.4:c.3989G>A MANE Select	NP_008853.3:p.Gly1330Glu
NM_001081676.2:c.3842G>A	NP_001075145.1:p.Gly1281Glu
NM_001081677.2:c.3842G>A	NP_001075146.1:p.Gly1281Glu