Canonical Allele Identifier: CA2580069730

Gene: SCN5A

Linked Data

• ClinVar Variation Id: 2004246
• ClinVar RCV Id: RCV003658190

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38620841_38620842insAA , CM000665.2:g.38620841_38620842insAA	GRCh38
NC_000003.11:g.38662332_38662333insAA , CM000665.1:g.38662332_38662333insAA	GRCh37
NC_000003.10:g.38637336_38637337insAA	NCBI36
NG_008934.1:g.33832_33833insTT , LRG_289:g.33832_33833insTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327956.7:c.611+2_611+3insTT	ENSP00000333674.7:n.611+2_611+3insTT
ENST00000333535.9:c.611+2_611+3insTT	ENSP00000328968.4:n.611+2_611+3insTT
ENST00000413689.6:c.611+2_611+3insTT MANE Plus Clinical	ENSP00000410257.1:n.611+2_611+3insTT
ENST00000423572.7:c.611+2_611+3insTT MANE Select	ENSP00000398266.2:n.611+2_611+3insTT
ENST00000333535.8:c.611+2_611+3insTT	ENSP00000328968.4:n.611+2_611+3insTT
ENST00000413689.5:c.611+2_611+3insTT	ENSP00000410257.1:n.611+2_611+3insTT
ENST00000414099.6:c.611+2_611+3insTT	ENSP00000398962.2:n.611+2_611+3insTT
ENST00000423572.6:c.611+2_611+3insTT	ENSP00000398266.2:n.611+2_611+3insTT
ENST00000425664.5:c.611+2_611+3insTT	ENSP00000416634.1:n.611+2_611+3insTT
ENST00000449557.6:c.611+2_611+3insTT	ENSP00000413996.2:n.611+2_611+3insTT
ENST00000450102.6:c.611+2_611+3insTT	ENSP00000403355.2:n.611+2_611+3insTT
ENST00000451551.6:c.611+2_611+3insTT	ENSP00000388797.2:n.611+2_611+3insTT
ENST00000455624.6:c.611+2_611+3insTT	ENSP00000399524.2:n.611+2_611+3insTT
ENST00000491944.1:n.806+2_806+3insTT
ENST00000612060.1:c.611+2_611+3insTT	ENSP00000479016.1:n.611+2_611+3insTT
NM_000335.4:c.611+2_611+3insTT , LRG_289t2:c.611+2_611+3insTT	NP_000326.2:n.611+2_611+3insTT
NM_001099404.1:c.611+2_611+3insTT , LRG_289t3:c.611+2_611+3insTT	NP_001092874.1:n.611+2_611+3insTT
NM_001099405.1:c.611+2_611+3insTT	NP_001092875.1:n.611+2_611+3insTT
NM_001160160.1:c.611+2_611+3insTT	NP_001153632.1:n.611+2_611+3insTT
NM_001160161.1:c.611+2_611+3insTT	NP_001153633.1:n.611+2_611+3insTT
NM_198056.2:c.611+2_611+3insTT , LRG_289t1:c.611+2_611+3insTT	NP_932173.1:n.611+2_611+3insTT
XM_006713282.2:c.611+2_611+3insTT	XP_006713345.1:n.611+2_611+3insTT
XM_011533991.1:c.611+2_611+3insTT	XP_011532293.1:n.611+2_611+3insTT
XM_011533992.1:c.482+1559_482+1560insTT	XP_011532294.1:n.482+1559_482+1560insTT
NM_001354701.1:c.611+2_611+3insTT	NP_001341630.1:n.611+2_611+3insTT
XM_011533991.2:c.611+2_611+3insTT	XP_011532293.1:n.611+2_611+3insTT
XM_017007017.1:c.611+2_611+3insTT	XP_016862506.1:n.611+2_611+3insTT
NM_000335.5:c.611+2_611+3insTT MANE Select	NP_000326.2:n.611+2_611+3insTT
NM_001160160.2:c.611+2_611+3insTT	NP_001153632.1:n.611+2_611+3insTT
NM_001354701.2:c.611+2_611+3insTT	NP_001341630.1:n.611+2_611+3insTT
NM_001099404.2:c.611+2_611+3insTT MANE Plus Clinical	NP_001092874.1:n.611+2_611+3insTT
NM_001099405.2:c.611+2_611+3insTT	NP_001092875.1:n.611+2_611+3insTT
NM_001160161.2:c.611+2_611+3insTT	NP_001153633.1:n.611+2_611+3insTT
NM_198056.3:c.611+2_611+3insTT	NP_932173.1:n.611+2_611+3insTT