Canonical Allele Identifier: CA307969

Gene: SCN5A

Linked Data

• ClinVar Variation Id: 201569
• ClinVar RCV Id: RCV000183163
• dbSNP Id: rs794728921
• MyVariant Identifiers: chr3:g.38601919_38601921del (hg19) ; chr3:g.38560428_38560430del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38560429_38560431del , CM000665.2:g.38560429_38560431del	GRCh38
NC_000003.11:g.38601920_38601922del , CM000665.1:g.38601920_38601922del	GRCh37
NC_000003.10:g.38576924_38576926del	NCBI36
NG_008934.1:g.94243_94245del , LRG_289:g.94243_94245del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327956.7:c.3961-2_3961del
ENST00000333535.9:c.3964-2_3964del
ENST00000413689.6:c.3964-2_3964del
ENST00000423572.7:c.3961-2_3961del
ENST00000333535.8:c.3964-2_3964del
ENST00000413689.5:c.3964-2_3964del
ENST00000414099.6:c.3964-2_3964del
ENST00000423572.6:c.3961-2_3961del
ENST00000425664.5:c.3964-2_3964del
ENST00000449557.6:c.3802-2_3802del
ENST00000450102.6:c.3802-2_3802del
ENST00000451551.6:c.3802-2_3802del
ENST00000455624.6:c.3961-2_3961del
NM_000335.4:c.3961-2_3961del , LRG_289t2:c.3961-2_3961del
NM_001099404.1:c.3964-2_3964del , LRG_289t3:c.3964-2_3964del
NM_001099405.1:c.3964-2_3964del
NM_001160160.1:c.3961-2_3961del
NM_001160161.1:c.3802-2_3802del
NM_198056.2:c.3964-2_3964del , LRG_289t1:c.3964-2_3964del
XM_006713282.2:c.3964-2_3964del
XM_011533991.1:c.3961-2_3961del
XM_011533992.1:c.3835-2_3835del
NM_001354701.1:c.3961-2_3961del
XM_011533991.2:c.3961-2_3961del
XM_017007017.1:c.3802-2_3802del
NM_000335.5:c.3961-2_3961del
NM_001160160.2:c.3961-2_3961del
NM_001354701.2:c.3961-2_3961del
NM_001099404.2:c.3964-2_3964del
NM_001099405.2:c.3964-2_3964del
NM_001160161.2:c.3802-2_3802del
NM_198056.3:c.3964-2_3964del