Canonical Allele Identifier: CA349025063

Gene: SCN3A

Linked Data

• MyVariant Identifiers: chr2:g.165953802A>T (hg19) ; chr2:g.165097292A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.165097292A>T , CM000664.2:g.165097292A>T	GRCh38
NC_000002.11:g.165953802A>T , CM000664.1:g.165953802A>T	GRCh37
NC_000002.10:g.165662048A>T	NCBI36
NG_042289.1:g.111797T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706067.1:c.4148T>A	ENSP00000516211.1:p.Phe1383Tyr
ENST00000283254.12:c.4199T>A MANE Select	ENSP00000283254.7:p.Phe1400Tyr
ENST00000638473.1:c.*2040T>A	ENSP00000491552.1:n.*2040T>A
ENST00000639244.1:c.4148T>A	ENSP00000492251.1:p.Phe1383Tyr
ENST00000640652.1:c.*933T>A	ENSP00000492807.1:n.*933T>A
ENST00000658209.1:c.2408T>A	ENSP00000499598.1:n.2408T>A
ENST00000283254.11:c.4199T>A	ENSP00000283254.7:p.Phe1400Tyr
ENST00000360093.7:c.4199T>A	ENSP00000353206.3:p.Phe1400Tyr
ENST00000409101.7:c.4052T>A	ENSP00000386726.3:p.Phe1351Tyr
ENST00000440431.6:c.4052T>A	ENSP00000403348.1:p.Phe1351Tyr
ENST00000471697.1:n.323T>A
NM_001081676.1:c.4052T>A	NP_001075145.1:p.Phe1351Tyr
NM_001081677.1:c.4052T>A	NP_001075146.1:p.Phe1351Tyr
NM_006922.3:c.4199T>A	NP_008853.3:p.Phe1400Tyr
XM_006712679.1:c.4199T>A	XP_006712742.1:p.Phe1400Tyr
XM_011511610.1:c.4199T>A	XP_011509912.1:p.Phe1400Tyr
XM_011511611.1:c.4199T>A	XP_011509913.1:p.Phe1400Tyr
XM_011511612.1:c.4148T>A	XP_011509914.1:p.Phe1383Tyr
XM_011511613.1:c.2309T>A	XP_011509915.1:p.Phe770Tyr
XM_011511610.3:c.4199T>A	XP_011509912.1:p.Phe1400Tyr
XM_011511613.3:c.2309T>A	XP_011509915.1:p.Phe770Tyr
XM_017004660.2:c.4199T>A	XP_016860149.1:p.Phe1400Tyr
XM_017004661.2:c.4148T>A	XP_016860150.1:p.Phe1383Tyr
XM_017004662.2:c.4061T>A	XP_016860151.1:p.Phe1354Tyr
XM_017004663.2:c.2309T>A	XP_016860152.1:p.Phe770Tyr
NM_006922.4:c.4199T>A MANE Select	NP_008853.3:p.Phe1400Tyr
NM_001081676.2:c.4052T>A	NP_001075145.1:p.Phe1351Tyr
NM_001081677.2:c.4052T>A	NP_001075146.1:p.Phe1351Tyr