Canonical Allele Identifier: CA018476
Gene: SCN5A HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 67915
ClinVar RCV Id: RCV000058696
dbSNP Id: rs199473619

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.38554412C>G , CM000665.2:g.38554412C>G GRCh38
NC_000003.10:g.38570907C>G NCBI36
NC_000003.11:g.38595903C>G , CM000665.1:g.38595903C>G GRCh37
NG_008934.1:g.100261G>C , LRG_289:g.100261G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000333535.8:c.4680G>C ENSP00000328968.4:p.Leu1560Phe
ENST00000413689.5:c.4680G>C ENSP00000410257.1:p.Leu1560Phe
ENST00000414099.6:c.4626G>C ENSP00000398962.2:p.Leu1542Phe
ENST00000423572.6:c.4677G>C ENSP00000398266.2:p.Leu1559Phe
ENST00000425664.5:c.4626G>C ENSP00000416634.1:p.Leu1542Phe
ENST00000449557.6:c.4518G>C ENSP00000413996.2:p.Leu1506Phe
ENST00000450102.6:c.4518G>C ENSP00000403355.2:p.Leu1506Phe
ENST00000451551.6:c.4518G>C ENSP00000388797.2:p.Leu1506Phe
ENST00000455624.6:c.4677G>C ENSP00000399524.2:p.Leu1559Phe
ENST00000464652.1:n.138G>C
NM_000335.4:c.4677G>C , LRG_289t2:c.4677G>C NP_000326.2:p.Leu1559Phe
NM_001099404.1:c.4680G>C , LRG_289t3:c.4680G>C NP_001092874.1:p.Leu1560Phe
NM_001099405.1:c.4626G>C VV NP_001092875.1:p.Leu1542Phe
NM_001160160.1:c.4677G>C VV NP_001153632.1:p.Leu1559Phe
NM_001160161.1:c.4518G>C VV NP_001153633.1:p.Leu1506Phe
NM_198056.2:c.4680G>C , LRG_289t1:c.4680G>C NP_932173.1:p.Leu1560Phe
XM_006713282.2:c.4680G>C XP_006713345.1:p.Leu1560Phe
XM_011533991.1:c.4677G>C XP_011532293.1:p.Leu1559Phe
XM_011533992.1:c.4551G>C XP_011532294.1:p.Leu1517Phe