Canonical Allele Identifier: CA018074
Gene: SCN5A HGNC NCBI

Linked Data

ClinVar Variation Id: 179030
dbSNP Id: rs200034939
gnomAD v2: 3-38598739-C-A
gnomAD v3: 3-38557248-C-A
gnomAD v4: 3-38557248-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.38557248C>A , CM000665.2:g.38557248C>A GRCh38
NC_000003.11:g.38598739C>A , CM000665.1:g.38598739C>A GRCh37
NC_000003.10:g.38573743C>A NCBI36
NG_008934.1:g.97425G>T , LRG_289:g.97425G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000327956.7:c.4279G>T ENSP00000333674.7:p.Ala1427Ser
ENST00000333535.9:c.4282G>T ENSP00000328968.4:p.Ala1428Ser
ENST00000413689.6:c.4282G>T MANE Plus Clinical ENSP00000410257.1:p.Ala1428Ser
ENST00000423572.7:c.4279G>T MANE Select ENSP00000398266.2:p.Ala1427Ser
ENST00000333535.8:c.4282G>T ENSP00000328968.4:p.Ala1428Ser
ENST00000413689.5:c.4282G>T ENSP00000410257.1:p.Ala1428Ser
ENST00000414099.6:c.4246-670G>T ENSP00000398962.2:n.4246-670G>T
ENST00000423572.6:c.4279G>T ENSP00000398266.2:p.Ala1427Ser
ENST00000425664.5:c.4246-670G>T ENSP00000416634.1:n.4246-670G>T
ENST00000449557.6:c.4120G>T ENSP00000413996.2:p.Ala1374Ser
ENST00000450102.6:c.4120G>T ENSP00000403355.2:p.Ala1374Ser
ENST00000451551.6:c.4120G>T ENSP00000388797.2:p.Ala1374Ser
ENST00000455624.6:c.4279G>T ENSP00000399524.2:p.Ala1427Ser
NM_000335.4:c.4279G>T , LRG_289t2:c.4279G>T NP_000326.2:p.Ala1427Ser
NM_001099404.1:c.4282G>T , LRG_289t3:c.4282G>T NP_001092874.1:p.Ala1428Ser
NM_001099405.1:c.4246-670G>T NP_001092875.1:n.4246-670G>T
NM_001160160.1:c.4279G>T NP_001153632.1:p.Ala1427Ser
NM_001160161.1:c.4120G>T NP_001153633.1:p.Ala1374Ser
NM_198056.2:c.4282G>T , LRG_289t1:c.4282G>T NP_932173.1:p.Ala1428Ser
XM_006713282.2:c.4282G>T XP_006713345.1:p.Ala1428Ser
XM_011533991.1:c.4279G>T XP_011532293.1:p.Ala1427Ser
XM_011533992.1:c.4153G>T XP_011532294.1:p.Ala1385Ser
NM_001354701.1:c.4243-670G>T NP_001341630.1:n.4243-670G>T
XM_011533991.2:c.4279G>T XP_011532293.1:p.Ala1427Ser
XM_017007017.1:c.4120G>T XP_016862506.1:p.Ala1374Ser
NM_000335.5:c.4279G>T MANE Select NP_000326.2:p.Ala1427Ser
NM_001160160.2:c.4279G>T NP_001153632.1:p.Ala1427Ser
NM_001354701.2:c.4243-670G>T NP_001341630.1:n.4243-670G>T
NM_001099404.2:c.4282G>T MANE Plus Clinical NP_001092874.1:p.Ala1428Ser
NM_001099405.2:c.4246-670G>T NP_001092875.1:n.4246-670G>T
NM_001160161.2:c.4120G>T NP_001153633.1:p.Ala1374Ser
NM_198056.3:c.4282G>T NP_932173.1:p.Ala1428Ser