Canonical Allele Identifier: CA10586351

Gene: SCN5A

Linked Data

• ClinVar Variation Id: 254157
• ClinVar RCV Id: RCV000240648 ; RCV000638741
• gnomAD v4: 3-38554272-T-TACCC
• MyVariant Identifiers: chr3:g.38595764_38595767dupACCC (hg19) ; chr3:g.38595763_38595764insACCC (hg19) ; chr3:g.38554273_38554276dupACCC (hg38) ; chr3:g.38554272_38554273insACCC (hg38)
• PubMed: PMID:15808832 ; PMID:15863661

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38554279_38554282dup , CM000665.2:g.38554279_38554282dup	GRCh38
NC_000003.11:g.38595770_38595773dup , CM000665.1:g.38595770_38595773dup	GRCh37
NC_000003.10:g.38570774_38570777dup	NCBI36
NG_008934.1:g.100397_100400dup , LRG_289:g.100397_100400dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000327956.7:c.4810+3_4810+6dup
ENST00000333535.9:c.4813+3_4813+6dup
ENST00000413689.6:c.4813+3_4813+6dup
ENST00000423572.7:c.4810+3_4810+6dup
ENST00000333535.8:c.4813+3_4813+6dup
ENST00000413689.5:c.4813+3_4813+6dup
ENST00000414099.6:c.4759+3_4759+6dup
ENST00000423572.6:c.4810+3_4810+6dup
ENST00000425664.5:c.4759+3_4759+6dup
ENST00000449557.6:c.4651+3_4651+6dup
ENST00000450102.6:c.4651+3_4651+6dup
ENST00000451551.6:c.4651+3_4651+6dup
ENST00000455624.6:c.4714+99_4714+102dup	ENSP00000399524.2:n.4714+99_4714+102dup
ENST00000464652.1:n.271+3_271+6dup
NM_000335.4:c.4810+3_4810+6dup , LRG_289t2:c.4810+3_4810+6dup
NM_001099404.1:c.4813+3_4813+6dup , LRG_289t3:c.4813+3_4813+6dup
NM_001099405.1:c.4759+3_4759+6dup
NM_001160160.1:c.4714+99_4714+102dup	NP_001153632.1:n.4714+99_4714+102dup
NM_001160161.1:c.4651+3_4651+6dup
NM_198056.2:c.4813+3_4813+6dup , LRG_289t1:c.4813+3_4813+6dup
XM_006713282.2:c.4813+3_4813+6dup
XM_011533991.1:c.4810+3_4810+6dup
XM_011533992.1:c.4684+3_4684+6dup
NM_001354701.1:c.4756+3_4756+6dup
XM_011533991.2:c.4810+3_4810+6dup
XM_017007017.1:c.4651+3_4651+6dup
NM_000335.5:c.4810+3_4810+6dup
NM_001160160.2:c.4714+99_4714+102dup	NP_001153632.1:n.4714+99_4714+102dup
NM_001354701.2:c.4756+3_4756+6dup
NM_001099404.2:c.4813+3_4813+6dup
NM_001099405.2:c.4759+3_4759+6dup
NM_001160161.2:c.4651+3_4651+6dup
NM_198056.3:c.4813+3_4813+6dup