Canonical Allele Identifier: CA16604006
Gene: SCN3A HGNC NCBI

Linked Data

ClinVar Variation Id: 379838
dbSNP Id: rs1057520753

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.165097493G>A , CM000664.2:g.165097493G>A GRCh38
NC_000002.11:g.165954003G>A , CM000664.1:g.165954003G>A GRCh37
NC_000002.10:g.165662249G>A NCBI36
NG_042289.1:g.111596C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000706067.1:c.3947C>T ENSP00000516211.1:p.Pro1316Leu
ENST00000283254.12:c.3998C>T MANE Select ENSP00000283254.7:p.Pro1333Leu
ENST00000638473.1:c.*1839C>T ENSP00000491552.1:n.*1839C>T
ENST00000639244.1:c.3947C>T ENSP00000492251.1:p.Pro1316Leu
ENST00000640652.1:c.*732C>T ENSP00000492807.1:n.*732C>T
ENST00000658209.1:c.2207C>T ENSP00000499598.1:n.2207C>T
ENST00000283254.11:c.3998C>T ENSP00000283254.7:p.Pro1333Leu
ENST00000360093.7:c.3998C>T ENSP00000353206.3:p.Pro1333Leu
ENST00000409101.7:c.3851C>T ENSP00000386726.3:p.Pro1284Leu
ENST00000440431.6:c.3851C>T ENSP00000403348.1:p.Pro1284Leu
ENST00000471697.1:n.122C>T
NM_001081676.1:c.3851C>T NP_001075145.1:p.Pro1284Leu
NM_001081677.1:c.3851C>T NP_001075146.1:p.Pro1284Leu
NM_006922.3:c.3998C>T NP_008853.3:p.Pro1333Leu
XM_006712679.1:c.3998C>T XP_006712742.1:p.Pro1333Leu
XM_011511610.1:c.3998C>T XP_011509912.1:p.Pro1333Leu
XM_011511611.1:c.3998C>T XP_011509913.1:p.Pro1333Leu
XM_011511612.1:c.3947C>T XP_011509914.1:p.Pro1316Leu
XM_011511613.1:c.2108C>T XP_011509915.1:p.Pro703Leu
XM_011511610.3:c.3998C>T XP_011509912.1:p.Pro1333Leu
XM_011511613.3:c.2108C>T XP_011509915.1:p.Pro703Leu
XM_017004660.2:c.3998C>T XP_016860149.1:p.Pro1333Leu
XM_017004661.2:c.3947C>T XP_016860150.1:p.Pro1316Leu
XM_017004662.2:c.3860C>T XP_016860151.1:p.Pro1287Leu
XM_017004663.2:c.2108C>T XP_016860152.1:p.Pro703Leu
NM_006922.4:c.3998C>T MANE Select NP_008853.3:p.Pro1333Leu
NM_001081676.2:c.3851C>T NP_001075145.1:p.Pro1284Leu
NM_001081677.2:c.3851C>T NP_001075146.1:p.Pro1284Leu