Canonical Allele Identifier: CA2697550808

Gene: SCN5A

Linked Data

• ClinVar Variation Id: 2767909
• ClinVar RCV Id: RCV003574116

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38551558_38551561dup , CM000665.2:g.38551558_38551561dup	GRCh38
NC_000003.11:g.38593049_38593052dup , CM000665.1:g.38593049_38593052dup	GRCh37
NC_000003.10:g.38568053_38568056dup	NCBI36
NG_008934.1:g.103114_103117dup , LRG_289:g.103114_103117dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327956.7:c.4811-1_4813dup
ENST00000333535.9:c.4814-1_4816dup
ENST00000413689.6:c.4814-1_4816dup
ENST00000423572.7:c.4811-1_4813dup
ENST00000333535.8:c.4814-1_4816dup
ENST00000413689.5:c.4814-1_4816dup
ENST00000414099.6:c.4760-1_4762dup
ENST00000423572.6:c.4811-1_4813dup
ENST00000425664.5:c.4760-1_4762dup
ENST00000449557.6:c.4652-1_4654dup
ENST00000450102.6:c.4652-1_4654dup
ENST00000451551.6:c.4652-1_4654dup
ENST00000455624.6:c.4715-1_4717dup
NM_000335.4:c.4811-1_4813dup , LRG_289t2:c.4811-1_4813dup
NM_001099404.1:c.4814-1_4816dup , LRG_289t3:c.4814-1_4816dup
NM_001099405.1:c.4760-1_4762dup
NM_001160160.1:c.4715-1_4717dup
NM_001160161.1:c.4652-1_4654dup
NM_198056.2:c.4814-1_4816dup , LRG_289t1:c.4814-1_4816dup
XM_006713282.2:c.4814-1_4816dup
XM_011533991.1:c.4811-1_4813dup
XM_011533992.1:c.4685-1_4687dup
NM_001354701.1:c.4757-1_4759dup
XM_011533991.2:c.4811-1_4813dup
XM_017007017.1:c.4652-1_4654dup
NM_000335.5:c.4811-1_4813dup
NM_001160160.2:c.4715-1_4717dup
NM_001354701.2:c.4757-1_4759dup
NM_001099404.2:c.4814-1_4816dup
NM_001099405.2:c.4760-1_4762dup
NM_001160161.2:c.4652-1_4654dup
NM_198056.3:c.4814-1_4816dup