Canonical Allele Identifier: CA349020446

Gene: SCN3A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.165094424T>C , CM000664.2:g.165094424T>C	GRCh38
NC_000002.11:g.165950934T>C , CM000664.1:g.165950934T>C	GRCh37
NC_000002.10:g.165659180T>C	NCBI36
NG_042289.1:g.114665A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706067.1:c.4435A>G	ENSP00000516211.1:p.Met1479Val
ENST00000283254.12:c.4486A>G MANE Select	ENSP00000283254.7:p.Met1496Val
ENST00000638473.1:c.*2327A>G	ENSP00000491552.1:n.*2327A>G
ENST00000639244.1:c.4423A>G	ENSP00000492251.1:p.Met1475Val
ENST00000640652.1:c.*1220A>G	ENSP00000492807.1:n.*1220A>G
ENST00000658209.1:c.2695A>G	ENSP00000499598.1:n.2695A>G
ENST00000283254.11:c.4486A>G	ENSP00000283254.7:p.Met1496Val
ENST00000360093.7:c.4486A>G	ENSP00000353206.3:p.Met1496Val
ENST00000409101.7:c.4339A>G	ENSP00000386726.3:p.Met1447Val
NM_001081676.1:c.4339A>G	NP_001075145.1:p.Met1447Val
NM_001081677.1:c.4339A>G	NP_001075146.1:p.Met1447Val
NM_006922.3:c.4486A>G	NP_008853.3:p.Met1496Val
XM_006712679.1:c.4486A>G	XP_006712742.1:p.Met1496Val
XM_011511610.1:c.4486A>G	XP_011509912.1:p.Met1496Val
XM_011511611.1:c.4486A>G	XP_011509913.1:p.Met1496Val
XM_011511612.1:c.4435A>G	XP_011509914.1:p.Met1479Val
XM_011511613.1:c.2596A>G	XP_011509915.1:p.Met866Val
XM_011511610.3:c.4486A>G	XP_011509912.1:p.Met1496Val
XM_011511613.3:c.2596A>G	XP_011509915.1:p.Met866Val
XM_017004660.2:c.4486A>G	XP_016860149.1:p.Met1496Val
XM_017004661.2:c.4435A>G	XP_016860150.1:p.Met1479Val
XM_017004662.2:c.4348A>G	XP_016860151.1:p.Met1450Val
XM_017004663.2:c.2596A>G	XP_016860152.1:p.Met866Val
NM_006922.4:c.4486A>G MANE Select	NP_008853.3:p.Met1496Val
NM_001081676.2:c.4339A>G	NP_001075145.1:p.Met1447Val
NM_001081677.2:c.4339A>G	NP_001075146.1:p.Met1447Val