Canonical Allele Identifier: CA1358556199
Gene: SCN5A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.38550605G= , CM000665.2:g.38550605G= GRCh38
NC_000003.11:g.38592096G= , CM000665.1:g.38592096G= GRCh37
NC_000003.10:g.38567100G= NCBI36
NG_008934.1:g.104068C= , LRG_289:g.104068C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000327956.7:c.5764C= ENSP00000333674.7:p.His1922=
ENST00000333535.9:c.5767C= ENSP00000328968.4:p.His1923=
ENST00000413689.6:c.5767C= MANE Plus Clinical ENSP00000410257.1:p.His1923=
ENST00000423572.7:c.5764C= MANE Select ENSP00000398266.2:p.His1922=
ENST00000333535.8:c.5767C= ENSP00000328968.4:p.His1923=
ENST00000413689.5:c.5767C= ENSP00000410257.1:p.His1923=
ENST00000414099.6:c.5713C= ENSP00000398962.2:p.His1905=
ENST00000423572.6:c.5764C= ENSP00000398266.2:p.His1922=
ENST00000425664.5:c.5713C= ENSP00000416634.1:p.His1905=
ENST00000449557.6:c.5605C= ENSP00000413996.2:p.His1869=
ENST00000450102.6:c.5605C= ENSP00000403355.2:p.His1869=
ENST00000451551.6:c.5605C= ENSP00000388797.2:p.His1869=
ENST00000455624.6:c.5668C= ENSP00000399524.2:p.His1890=
NM_000335.4:c.5764C= , LRG_289t2:c.5764C= NP_000326.2:p.His1922=
NM_001099404.1:c.5767C= , LRG_289t3:c.5767C= NP_001092874.1:p.His1923=
NM_001099405.1:c.5713C= NP_001092875.1:p.His1905=
NM_001160160.1:c.5668C= NP_001153632.1:p.His1890=
NM_001160161.1:c.5605C= NP_001153633.1:p.His1869=
NM_198056.2:c.5767C= , LRG_289t1:c.5767C= NP_932173.1:p.His1923=
XM_006713282.2:c.5767C= XP_006713345.1:p.His1923=
XM_011533991.1:c.5764C= XP_011532293.1:p.His1922=
XM_011533992.1:c.5638C= XP_011532294.1:p.His1880=
NM_001354701.1:c.5710C= NP_001341630.1:p.His1904=
XM_011533991.2:c.5764C= XP_011532293.1:p.His1922=
XM_017007017.1:c.5605C= XP_016862506.1:p.His1869=
NM_000335.5:c.5764C= MANE Select NP_000326.2:p.His1922=
NM_001160160.2:c.5668C= NP_001153632.1:p.His1890=
NM_001354701.2:c.5710C= NP_001341630.1:p.His1904=
NM_001099404.2:c.5767C= MANE Plus Clinical NP_001092874.1:p.His1923=
NM_001099405.2:c.5713C= NP_001092875.1:p.His1905=
NM_001160161.2:c.5605C= NP_001153633.1:p.His1869=
NM_198056.3:c.5767C= NP_932173.1:p.His1923=