Canonical Allele Identifier: CA349026004

Gene: SCN3A

Linked Data

• MyVariant Identifiers: chr2:g.165954007T>A (hg19) ; chr2:g.165097497T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.165097497T>A , CM000664.2:g.165097497T>A	GRCh38
NC_000002.11:g.165954007T>A , CM000664.1:g.165954007T>A	GRCh37
NC_000002.10:g.165662253T>A	NCBI36
NG_042289.1:g.111592A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000706067.1:c.3943A>T	ENSP00000516211.1:p.Ile1315Phe
ENST00000283254.12:c.3994A>T MANE Select	ENSP00000283254.7:p.Ile1332Phe
ENST00000638473.1:c.*1835A>T	ENSP00000491552.1:n.*1835A>T
ENST00000639244.1:c.3943A>T	ENSP00000492251.1:p.Ile1315Phe
ENST00000640652.1:c.*728A>T	ENSP00000492807.1:n.*728A>T
ENST00000658209.1:c.2203A>T	ENSP00000499598.1:n.2203A>T
ENST00000283254.11:c.3994A>T	ENSP00000283254.7:p.Ile1332Phe
ENST00000360093.7:c.3994A>T	ENSP00000353206.3:p.Ile1332Phe
ENST00000409101.7:c.3847A>T	ENSP00000386726.3:p.Ile1283Phe
ENST00000440431.6:c.3847A>T	ENSP00000403348.1:p.Ile1283Phe
ENST00000471697.1:n.118A>T
NM_001081676.1:c.3847A>T	NP_001075145.1:p.Ile1283Phe
NM_001081677.1:c.3847A>T	NP_001075146.1:p.Ile1283Phe
NM_006922.3:c.3994A>T	NP_008853.3:p.Ile1332Phe
XM_006712679.1:c.3994A>T	XP_006712742.1:p.Ile1332Phe
XM_011511610.1:c.3994A>T	XP_011509912.1:p.Ile1332Phe
XM_011511611.1:c.3994A>T	XP_011509913.1:p.Ile1332Phe
XM_011511612.1:c.3943A>T	XP_011509914.1:p.Ile1315Phe
XM_011511613.1:c.2104A>T	XP_011509915.1:p.Ile702Phe
XM_011511610.3:c.3994A>T	XP_011509912.1:p.Ile1332Phe
XM_011511613.3:c.2104A>T	XP_011509915.1:p.Ile702Phe
XM_017004660.2:c.3994A>T	XP_016860149.1:p.Ile1332Phe
XM_017004661.2:c.3943A>T	XP_016860150.1:p.Ile1315Phe
XM_017004662.2:c.3856A>T	XP_016860151.1:p.Ile1286Phe
XM_017004663.2:c.2104A>T	XP_016860152.1:p.Ile702Phe
NM_006922.4:c.3994A>T MANE Select	NP_008853.3:p.Ile1332Phe
NM_001081676.2:c.3847A>T	NP_001075145.1:p.Ile1283Phe
NM_001081677.2:c.3847A>T	NP_001075146.1:p.Ile1283Phe