Canonical Allele Identifier: CA018565
Gene: SCN5A HGNC NCBI

Linked Data

ClinVar Variation Id: 67924
dbSNP Id: rs199473278
gnomAD v2: 3-38595797-A-T
gnomAD v3: 3-38554306-A-T
gnomAD v4: 3-38554306-A-T

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.38554306A>T , CM000665.2:g.38554306A>T GRCh38
NC_000003.11:g.38595797A>T , CM000665.1:g.38595797A>T GRCh37
NC_000003.10:g.38570801A>T NCBI36
NG_008934.1:g.100367T>A , LRG_289:g.100367T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000327956.7:c.4783T>A ENSP00000333674.7:p.Phe1595Ile
ENST00000333535.9:c.4786T>A ENSP00000328968.4:p.Phe1596Ile
ENST00000413689.6:c.4786T>A MANE Plus Clinical ENSP00000410257.1:p.Phe1596Ile
ENST00000423572.7:c.4783T>A MANE Select ENSP00000398266.2:p.Phe1595Ile
ENST00000333535.8:c.4786T>A ENSP00000328968.4:p.Phe1596Ile
ENST00000413689.5:c.4786T>A ENSP00000410257.1:p.Phe1596Ile
ENST00000414099.6:c.4732T>A ENSP00000398962.2:p.Phe1578Ile
ENST00000423572.6:c.4783T>A ENSP00000398266.2:p.Phe1595Ile
ENST00000425664.5:c.4732T>A ENSP00000416634.1:p.Phe1578Ile
ENST00000449557.6:c.4624T>A ENSP00000413996.2:p.Phe1542Ile
ENST00000450102.6:c.4624T>A ENSP00000403355.2:p.Phe1542Ile
ENST00000451551.6:c.4624T>A ENSP00000388797.2:p.Phe1542Ile
ENST00000455624.6:c.4714+69T>A ENSP00000399524.2:n.4714+69T>A
ENST00000464652.1:n.244T>A
NM_000335.4:c.4783T>A , LRG_289t2:c.4783T>A NP_000326.2:p.Phe1595Ile
NM_001099404.1:c.4786T>A , LRG_289t3:c.4786T>A NP_001092874.1:p.Phe1596Ile
NM_001099405.1:c.4732T>A NP_001092875.1:p.Phe1578Ile
NM_001160160.1:c.4714+69T>A NP_001153632.1:n.4714+69T>A
NM_001160161.1:c.4624T>A NP_001153633.1:p.Phe1542Ile
NM_198056.2:c.4786T>A , LRG_289t1:c.4786T>A NP_932173.1:p.Phe1596Ile
XM_006713282.2:c.4786T>A XP_006713345.1:p.Phe1596Ile
XM_011533991.1:c.4783T>A XP_011532293.1:p.Phe1595Ile
XM_011533992.1:c.4657T>A XP_011532294.1:p.Phe1553Ile
NM_001354701.1:c.4729T>A NP_001341630.1:p.Phe1577Ile
XM_011533991.2:c.4783T>A XP_011532293.1:p.Phe1595Ile
XM_017007017.1:c.4624T>A XP_016862506.1:p.Phe1542Ile
NM_000335.5:c.4783T>A MANE Select NP_000326.2:p.Phe1595Ile
NM_001160160.2:c.4714+69T>A NP_001153632.1:n.4714+69T>A
NM_001354701.2:c.4729T>A NP_001341630.1:p.Phe1577Ile
NM_001099404.2:c.4786T>A MANE Plus Clinical NP_001092874.1:p.Phe1596Ile
NM_001099405.2:c.4732T>A NP_001092875.1:p.Phe1578Ile
NM_001160161.2:c.4624T>A NP_001153633.1:p.Phe1542Ile
NM_198056.3:c.4786T>A NP_932173.1:p.Phe1596Ile