Canonical Allele Identifier: CA1938645
Gene: SCN3A HGNC NCBI

Linked Data

ClinVar Variation Id: 522565
dbSNP Id: rs758906955

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.165097377T>C , CM000664.2:g.165097377T>C GRCh38
NC_000002.11:g.165953887T>C , CM000664.1:g.165953887T>C GRCh37
NC_000002.10:g.165662133T>C NCBI36
NG_042289.1:g.111712A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000283254.12:c.4114A>G MANE Select ENSP00000283254.7:p.Met1372Val
ENST00000638473.1:c.*1955A>G ENSP00000491552.1:p.=
ENST00000639244.1:c.4063A>G ENSP00000492251.1:p.Met1355Val
ENST00000640652.1:c.*848A>G ENSP00000492807.1:p.=
ENST00000658209.1:n.2323A>G ENSP00000499598.1:p.=
ENST00000283254.11:c.4114A>G ENSP00000283254.7:p.Met1372Val
ENST00000360093.7:c.4114A>G ENSP00000353206.3:p.Met1372Val
ENST00000409101.7:c.3967A>G ENSP00000386726.3:p.Met1323Val
ENST00000440431.6:c.3967A>G ENSP00000403348.1:p.Met1323Val
ENST00000471697.1:n.238A>G
NM_001081676.1:c.3967A>G NP_001075145.1:p.Met1323Val
NM_001081677.1:c.3967A>G NP_001075146.1:p.Met1323Val
NM_006922.3:c.4114A>G NP_008853.3:p.Met1372Val
XM_006712679.1:c.4114A>G XP_006712742.1:p.Met1372Val
XM_011511610.1:c.4114A>G XP_011509912.1:p.Met1372Val
XM_011511611.1:c.4114A>G XP_011509913.1:p.Met1372Val
XM_011511612.1:c.4063A>G XP_011509914.1:p.Met1355Val
XM_011511613.1:c.2224A>G XP_011509915.1:p.Met742Val
XM_011511610.3:c.4114A>G XP_011509912.1:p.Met1372Val
XM_011511613.3:c.2224A>G XP_011509915.1:p.Met742Val
XM_017004660.2:c.4114A>G XP_016860149.1:p.Met1372Val
XM_017004661.2:c.4063A>G XP_016860150.1:p.Met1355Val
XM_017004662.2:c.3976A>G XP_016860151.1:p.Met1326Val
XM_017004663.2:c.2224A>G XP_016860152.1:p.Met742Val
NM_006922.4:c.4114A>G MANE Select NP_008853.3:p.Met1372Val
NM_001081676.2:c.3967A>G NP_001075145.1:p.Met1323Val
NM_001081677.2:c.3967A>G NP_001075146.1:p.Met1323Val