Canonical Allele Identifier: CA1358556426
Gene: SCN5A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.38550688G= , CM000665.2:g.38550688G= GRCh38
NC_000003.11:g.38592179G= , CM000665.1:g.38592179G= GRCh37
NC_000003.10:g.38567183G= NCBI36
NG_008934.1:g.103985C= , LRG_289:g.103985C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000327956.7:c.5681C= ENSP00000333674.7:p.Thr1894=
ENST00000333535.9:c.5684C= ENSP00000328968.4:p.Thr1895=
ENST00000413689.6:c.5684C= MANE Plus Clinical ENSP00000410257.1:p.Thr1895=
ENST00000423572.7:c.5681C= MANE Select ENSP00000398266.2:p.Thr1894=
ENST00000333535.8:c.5684C= ENSP00000328968.4:p.Thr1895=
ENST00000413689.5:c.5684C= ENSP00000410257.1:p.Thr1895=
ENST00000414099.6:c.5630C= ENSP00000398962.2:p.Thr1877=
ENST00000423572.6:c.5681C= ENSP00000398266.2:p.Thr1894=
ENST00000425664.5:c.5630C= ENSP00000416634.1:p.Thr1877=
ENST00000449557.6:c.5522C= ENSP00000413996.2:p.Thr1841=
ENST00000450102.6:c.5522C= ENSP00000403355.2:p.Thr1841=
ENST00000451551.6:c.5522C= ENSP00000388797.2:p.Thr1841=
ENST00000455624.6:c.5585C= ENSP00000399524.2:p.Thr1862=
NM_000335.4:c.5681C= , LRG_289t2:c.5681C= NP_000326.2:p.Thr1894=
NM_001099404.1:c.5684C= , LRG_289t3:c.5684C= NP_001092874.1:p.Thr1895=
NM_001099405.1:c.5630C= NP_001092875.1:p.Thr1877=
NM_001160160.1:c.5585C= NP_001153632.1:p.Thr1862=
NM_001160161.1:c.5522C= NP_001153633.1:p.Thr1841=
NM_198056.2:c.5684C= , LRG_289t1:c.5684C= NP_932173.1:p.Thr1895=
XM_006713282.2:c.5684C= XP_006713345.1:p.Thr1895=
XM_011533991.1:c.5681C= XP_011532293.1:p.Thr1894=
XM_011533992.1:c.5555C= XP_011532294.1:p.Thr1852=
NM_001354701.1:c.5627C= NP_001341630.1:p.Thr1876=
XM_011533991.2:c.5681C= XP_011532293.1:p.Thr1894=
XM_017007017.1:c.5522C= XP_016862506.1:p.Thr1841=
NM_000335.5:c.5681C= MANE Select NP_000326.2:p.Thr1894=
NM_001160160.2:c.5585C= NP_001153632.1:p.Thr1862=
NM_001354701.2:c.5627C= NP_001341630.1:p.Thr1876=
NM_001099404.2:c.5684C= MANE Plus Clinical NP_001092874.1:p.Thr1895=
NM_001099405.2:c.5630C= NP_001092875.1:p.Thr1877=
NM_001160161.2:c.5522C= NP_001153633.1:p.Thr1841=
NM_198056.3:c.5684C= NP_932173.1:p.Thr1895=