Canonical Allele Identifier: CA018714
Gene: SCN5A HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 67937
dbSNP Id: rs199473623

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.38551486C>T , CM000665.2:g.38551486C>T GRCh38
NC_000003.10:g.38567981C>T NCBI36
NC_000003.11:g.38592977C>T , CM000665.1:g.38592977C>T GRCh37
NG_008934.1:g.103187G>A , LRG_289:g.103187G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000333535.8:c.4886G>A ENSP00000328968.4:p.Arg1629Gln
ENST00000413689.5:c.4886G>A ENSP00000410257.1:p.Arg1629Gln
ENST00000414099.6:c.4832G>A ENSP00000398962.2:p.Arg1611Gln
ENST00000423572.6:c.4883G>A ENSP00000398266.2:p.Arg1628Gln
ENST00000425664.5:c.4832G>A ENSP00000416634.1:p.Arg1611Gln
ENST00000449557.6:c.4724G>A ENSP00000413996.2:p.Arg1575Gln
ENST00000450102.6:c.4724G>A ENSP00000403355.2:p.Arg1575Gln
ENST00000451551.6:c.4724G>A ENSP00000388797.2:p.Arg1575Gln
ENST00000455624.6:c.4787G>A ENSP00000399524.2:p.Arg1596Gln
NM_000335.4:c.4883G>A , LRG_289t2:c.4883G>A NP_000326.2:p.Arg1628Gln
NM_001099404.1:c.4886G>A , LRG_289t3:c.4886G>A NP_001092874.1:p.Arg1629Gln
NM_001099405.1:c.4832G>A VV NP_001092875.1:p.Arg1611Gln
NM_001160160.1:c.4787G>A VV NP_001153632.1:p.Arg1596Gln
NM_001160161.1:c.4724G>A VV NP_001153633.1:p.Arg1575Gln
NM_198056.2:c.4886G>A , LRG_289t1:c.4886G>A NP_932173.1:p.Arg1629Gln
XM_006713282.2:c.4886G>A XP_006713345.1:p.Arg1629Gln
XM_011533991.1:c.4883G>A XP_011532293.1:p.Arg1628Gln
XM_011533992.1:c.4757G>A XP_011532294.1:p.Arg1586Gln