Canonical Allele Identifier: CA015193
Gene: SCN5A HGNC NCBI

Linked Data

ClinVar Variation Id: 201576
dbSNP Id: rs199473576

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.38603897G>C , CM000665.2:g.38603897G>C GRCh38
NC_000003.11:g.38645388G>C , CM000665.1:g.38645388G>C GRCh37
NC_000003.10:g.38620392G>C NCBI36
NG_008934.1:g.50776C>G , LRG_289:g.50776C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000333535.9:c.1705C>G ENSP00000328968.4:p.Arg569Gly
ENST00000413689.6:c.1705C>G MANE Plus Clinical ENSP00000410257.1:p.Arg569Gly
ENST00000423572.7:c.1705C>G MANE Select ENSP00000398266.2:p.Arg569Gly
ENST00000333535.8:c.1705C>G ENSP00000328968.4:p.Arg569Gly
ENST00000413689.5:c.1705C>G ENSP00000410257.1:p.Arg569Gly
ENST00000414099.6:c.1705C>G ENSP00000398962.2:p.Arg569Gly
ENST00000423572.6:c.1705C>G ENSP00000398266.2:p.Arg569Gly
ENST00000425664.5:c.1705C>G ENSP00000416634.1:p.Arg569Gly
ENST00000449557.6:c.1705C>G ENSP00000413996.2:p.Arg569Gly
ENST00000450102.6:c.1705C>G ENSP00000403355.2:p.Arg569Gly
ENST00000451551.6:c.1705C>G ENSP00000388797.2:p.Arg569Gly
ENST00000455624.6:c.1705C>G ENSP00000399524.2:p.Arg569Gly
NM_000335.4:c.1705C>G , LRG_289t2:c.1705C>G NP_000326.2:p.Arg569Gly
NM_001099404.1:c.1705C>G , LRG_289t3:c.1705C>G NP_001092874.1:p.Arg569Gly
NM_001099405.1:c.1705C>G NP_001092875.1:p.Arg569Gly
NM_001160160.1:c.1705C>G NP_001153632.1:p.Arg569Gly
NM_001160161.1:c.1705C>G NP_001153633.1:p.Arg569Gly
NM_198056.2:c.1705C>G , LRG_289t1:c.1705C>G NP_932173.1:p.Arg569Gly
XM_006713282.2:c.1705C>G XP_006713345.1:p.Arg569Gly
XM_011533991.1:c.1705C>G XP_011532293.1:p.Arg569Gly
XM_011533992.1:c.1576C>G XP_011532294.1:p.Arg526Gly
NM_001354701.1:c.1705C>G NP_001341630.1:p.Arg569Gly
XM_011533991.2:c.1705C>G XP_011532293.1:p.Arg569Gly
XM_017007017.1:c.1705C>G XP_016862506.1:p.Arg569Gly
NM_000335.5:c.1705C>G MANE Select NP_000326.2:p.Arg569Gly
NM_001160160.2:c.1705C>G NP_001153632.1:p.Arg569Gly
NM_001354701.2:c.1705C>G NP_001341630.1:p.Arg569Gly
NM_001099404.2:c.1705C>G MANE Plus Clinical NP_001092874.1:p.Arg569Gly
NM_001099405.2:c.1705C>G NP_001092875.1:p.Arg569Gly
NM_001160161.2:c.1705C>G NP_001153633.1:p.Arg569Gly
NM_198056.3:c.1705C>G NP_932173.1:p.Arg569Gly