Canonical Allele Identifier: CA542269454

Gene: SCN5A

Linked Data

• gnomAD v2: 3-38591662-G-GGTGCGGTTGCTGGCGCCTATATCGCCGACATCACCGATGGGGAAGATCGGGCTCGCCACTTCGGGCTCATGAGCGCTTGTTTCGGCGTGGGTATGGTGGC
• gnomAD v3: 3-38550171-G-GGTGCGGTTGCTGGCGCCTATATCGCCGACATCACCGATGGGGAAGATCGGGCTCGCCACTTCGGGCTCATGAGCGCTTGTTTCGGCGTGGGTATGGTGGC
• gnomAD v4: 3-38550171-G-GGTGCGGTTGCTGGCGCCTATATCGCCGACATCACCGATGGGGAAGATCGGGCTCGCCACTTCGGGCTCATGAGCGCTTGTTTCGGCGTGGGTATGGTGGC
• MyVariant Identifiers: chr3:g.38591662_38591663insGTGCGGTTGCTGGCGCCTATATCGCCGACATCACCGATGGGGAAGATCGGGCTCGCCACTTCGGGCTCATGAGCGCTTGTTTCGGCGTGGGTATGGTGGC (hg19) ; chr3:g.38550171_38550172insGTGCGGTTGCTGGCGCCTATATCGCCGACATCACCGATGGGGAAGATCGGGCTCGCCACTTCGGGCTCATGAGCGCTTGTTTCGGCGTGGGTATGGTGGC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38550171_38550172insGTGCGGTTGCTGGCGCCTATATCGCCGACATCACCGATGGGGAAGATCGGGCTCGCCACTTCGGGCTCATGAGCGCTTGTTTCGGCGTGGGTATGGTGGC , CM000665.2:g.38550171_38550172insGTGCGGTTGCTGGCGCCTATATCGCCGACATCACCGATGGGGAAGATCGGGCTCGCCACTTCGGGCTCATGAGCGCTTGTTTCGGCGTGGGTATGGTGGC	GRCh38
NC_000003.11:g.38591662_38591663insGTGCGGTTGCTGGCGCCTATATCGCCGACATCACCGATGGGGAAGATCGGGCTCGCCACTTCGGGCTCATGAGCGCTTGTTTCGGCGTGGGTATGGTGGC , CM000665.1:g.38591662_38591663insGTGCGGTTGCTGGCGCCTATATCGCCGACATCACCGATGGGGAAGATCGGGCTCGCCACTTCGGGCTCATGAGCGCTTGTTTCGGCGTGGGTATGGTGGC	GRCh37
NC_000003.10:g.38566666_38566667insGTGCGGTTGCTGGCGCCTATATCGCCGACATCACCGATGGGGAAGATCGGGCTCGCCACTTCGGGCTCATGAGCGCTTGTTTCGGCGTGGGTATGGTGGC	NCBI36
NG_008934.1:g.104501_104502insGCCACCATACCCACGCCGAAACAAGCGCTCATGAGCCCGAAGTGGCGAGCCCGATCTTCCCCATCGGTGATGTCGGCGATATAGGCGCCAGCAACCGCAC , LRG_289:g.104501_104502insGCCACCATACCCACGCCGAAACAAGCGCTCATGAGCCCGAAGTGGCGAGCCCGATCTTCCCCATCGGTGATGTCGGCGATATAGGCGCCAGCAACCGCAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327956.7:c.*149_*150insGCCACCATACCCACGCCGAAACAAGCGCTCATGAGCCCGAAGTGGCGAGCCCGATCTTCCCCATCGGTGATGTCGGCGATATAGGCGCCAGCAACCGCAC	ENSP00000333674.7:n.*149_*150insGCCACCATACCCACGCCGAAACAAGCGCT...
ENST00000333535.9:c.*149_*150insGCCACCATACCCACGCCGAAACAAGCGCTCATGAGCCCGAAGTGGCGAGCCCGATCTTCCCCATCGGTGATGTCGGCGATATAGGCGCCAGCAACCGCAC	ENSP00000328968.4:n.*149_*150insGCCACCATACCCACGCCGAAACAAGCGCT...
ENST00000413689.6:c.*149_*150insGCCACCATACCCACGCCGAAACAAGCGCTCATGAGCCCGAAGTGGCGAGCCCGATCTTCCCCATCGGTGATGTCGGCGATATAGGCGCCAGCAACCGCAC MANE Plus Clinical	ENSP00000410257.1:n.*149_*150insGCCACCATACCCACGCCGAAACAAGCGCT...
ENST00000423572.7:c.*149_*150insGCCACCATACCCACGCCGAAACAAGCGCTCATGAGCCCGAAGTGGCGAGCCCGATCTTCCCCATCGGTGATGTCGGCGATATAGGCGCCAGCAACCGCAC MANE Select	ENSP00000398266.2:n.*149_*150insGCCACCATACCCACGCCGAAACAAGCGCT...
ENST00000333535.8:c.*149_*150insGCCACCATACCCACGCCGAAACAAGCGCTCATGAGCCCGAAGTGGCGAGCCCGATCTTCCCCATCGGTGATGTCGGCGATATAGGCGCCAGCAACCGCAC	ENSP00000328968.4:n.*149_*150insGCCACCATACCCACGCCGAAACAAGCGCT...
ENST00000413689.5:c.*149_*150insGCCACCATACCCACGCCGAAACAAGCGCTCATGAGCCCGAAGTGGCGAGCCCGATCTTCCCCATCGGTGATGTCGGCGATATAGGCGCCAGCAACCGCAC	ENSP00000410257.1:n.*149_*150insGCCACCATACCCACGCCGAAACAAGCGCT...
ENST00000414099.6:c.*149_*150insGCCACCATACCCACGCCGAAACAAGCGCTCATGAGCCCGAAGTGGCGAGCCCGATCTTCCCCATCGGTGATGTCGGCGATATAGGCGCCAGCAACCGCAC	ENSP00000398962.2:n.*149_*150insGCCACCATACCCACGCCGAAACAAGCGCT...
ENST00000423572.6:c.*149_*150insGCCACCATACCCACGCCGAAACAAGCGCTCATGAGCCCGAAGTGGCGAGCCCGATCTTCCCCATCGGTGATGTCGGCGATATAGGCGCCAGCAACCGCAC	ENSP00000398266.2:n.*149_*150insGCCACCATACCCACGCCGAAACAAGCGCT...
ENST00000425664.5:c.*149_*150insGCCACCATACCCACGCCGAAACAAGCGCTCATGAGCCCGAAGTGGCGAGCCCGATCTTCCCCATCGGTGATGTCGGCGATATAGGCGCCAGCAACCGCAC	ENSP00000416634.1:n.*149_*150insGCCACCATACCCACGCCGAAACAAGCGCT...
ENST00000450102.6:c.*149_*150insGCCACCATACCCACGCCGAAACAAGCGCTCATGAGCCCGAAGTGGCGAGCCCGATCTTCCCCATCGGTGATGTCGGCGATATAGGCGCCAGCAACCGCAC	ENSP00000403355.2:n.*149_*150insGCCACCATACCCACGCCGAAACAAGCGCT...
ENST00000451551.6:c.*149_*150insGCCACCATACCCACGCCGAAACAAGCGCTCATGAGCCCGAAGTGGCGAGCCCGATCTTCCCCATCGGTGATGTCGGCGATATAGGCGCCAGCAACCGCAC	ENSP00000388797.2:n.*149_*150insGCCACCATACCCACGCCGAAACAAGCGCT...
ENST00000455624.6:c.*149_*150insGCCACCATACCCACGCCGAAACAAGCGCTCATGAGCCCGAAGTGGCGAGCCCGATCTTCCCCATCGGTGATGTCGGCGATATAGGCGCCAGCAACCGCAC	ENSP00000399524.2:n.*149_*150insGCCACCATACCCACGCCGAAACAAGCGCT...
NM_000335.4:c.*149_*150insGCCACCATACCCACGCCGAAACAAGCGCTCATGAGCCCGAAGTGGCGAGCCCGATCTTCCCCATCGGTGATGTCGGCGATATAGGCGCCAGCAACCGCAC , LRG_289t2:c.*149_*150insGCCACCATACCCACGCCGAAACAAGCGCTCATGAGCCCGAAGTGGCGAGCCCGATCTTCCCCATCGGTGATGTCGGCGATATAGGCGCCAGCAACCGCAC	NP_000326.2:n.*149_*150insGCCACCATACCCACGCCGAAACAAGCGCTCATGAG...
NM_001099404.1:c.*149_*150insGCCACCATACCCACGCCGAAACAAGCGCTCATGAGCCCGAAGTGGCGAGCCCGATCTTCCCCATCGGTGATGTCGGCGATATAGGCGCCAGCAACCGCAC , LRG_289t3:c.*149_*150insGCCACCATACCCACGCCGAAACAAGCGCTCATGAGCCCGAAGTGGCGAGCCCGATCTTCCCCATCGGTGATGTCGGCGATATAGGCGCCAGCAACCGCAC	NP_001092874.1:n.*149_*150insGCCACCATACCCACGCCGAAACAAGCGCTCAT...
NM_001099405.1:c.*149_*150insGCCACCATACCCACGCCGAAACAAGCGCTCATGAGCCCGAAGTGGCGAGCCCGATCTTCCCCATCGGTGATGTCGGCGATATAGGCGCCAGCAACCGCAC	NP_001092875.1:n.*149_*150insGCCACCATACCCACGCCGAAACAAGCGCTCAT...
NM_001160160.1:c.*149_*150insGCCACCATACCCACGCCGAAACAAGCGCTCATGAGCCCGAAGTGGCGAGCCCGATCTTCCCCATCGGTGATGTCGGCGATATAGGCGCCAGCAACCGCAC	NP_001153632.1:n.*149_*150insGCCACCATACCCACGCCGAAACAAGCGCTCAT...
NM_001160161.1:c.*149_*150insGCCACCATACCCACGCCGAAACAAGCGCTCATGAGCCCGAAGTGGCGAGCCCGATCTTCCCCATCGGTGATGTCGGCGATATAGGCGCCAGCAACCGCAC	NP_001153633.1:n.*149_*150insGCCACCATACCCACGCCGAAACAAGCGCTCAT...
NM_198056.2:c.*149_*150insGCCACCATACCCACGCCGAAACAAGCGCTCATGAGCCCGAAGTGGCGAGCCCGATCTTCCCCATCGGTGATGTCGGCGATATAGGCGCCAGCAACCGCAC , LRG_289t1:c.*149_*150insGCCACCATACCCACGCCGAAACAAGCGCTCATGAGCCCGAAGTGGCGAGCCCGATCTTCCCCATCGGTGATGTCGGCGATATAGGCGCCAGCAACCGCAC	NP_932173.1:n.*149_*150insGCCACCATACCCACGCCGAAACAAGCGCTCATGAG...
XM_006713282.2:c.*149_*150insGCCACCATACCCACGCCGAAACAAGCGCTCATGAGCCCGAAGTGGCGAGCCCGATCTTCCCCATCGGTGATGTCGGCGATATAGGCGCCAGCAACCGCAC	XP_006713345.1:n.*149_*150insGCCACCATACCCACGCCGAAACAAGCGCTCAT...
XM_011533991.1:c.*149_*150insGCCACCATACCCACGCCGAAACAAGCGCTCATGAGCCCGAAGTGGCGAGCCCGATCTTCCCCATCGGTGATGTCGGCGATATAGGCGCCAGCAACCGCAC	XP_011532293.1:n.*149_*150insGCCACCATACCCACGCCGAAACAAGCGCTCAT...
XM_011533992.1:c.*149_*150insGCCACCATACCCACGCCGAAACAAGCGCTCATGAGCCCGAAGTGGCGAGCCCGATCTTCCCCATCGGTGATGTCGGCGATATAGGCGCCAGCAACCGCAC	XP_011532294.1:n.*149_*150insGCCACCATACCCACGCCGAAACAAGCGCTCAT...
NM_001354701.1:c.*149_*150insGCCACCATACCCACGCCGAAACAAGCGCTCATGAGCCCGAAGTGGCGAGCCCGATCTTCCCCATCGGTGATGTCGGCGATATAGGCGCCAGCAACCGCAC	NP_001341630.1:n.*149_*150insGCCACCATACCCACGCCGAAACAAGCGCTCAT...
XM_011533991.2:c.*149_*150insGCCACCATACCCACGCCGAAACAAGCGCTCATGAGCCCGAAGTGGCGAGCCCGATCTTCCCCATCGGTGATGTCGGCGATATAGGCGCCAGCAACCGCAC	XP_011532293.1:n.*149_*150insGCCACCATACCCACGCCGAAACAAGCGCTCAT...
XM_017007017.1:c.*149_*150insGCCACCATACCCACGCCGAAACAAGCGCTCATGAGCCCGAAGTGGCGAGCCCGATCTTCCCCATCGGTGATGTCGGCGATATAGGCGCCAGCAACCGCAC	XP_016862506.1:n.*149_*150insGCCACCATACCCACGCCGAAACAAGCGCTCAT...
NM_000335.5:c.*149_*150insGCCACCATACCCACGCCGAAACAAGCGCTCATGAGCCCGAAGTGGCGAGCCCGATCTTCCCCATCGGTGATGTCGGCGATATAGGCGCCAGCAACCGCAC MANE Select	NP_000326.2:n.*149_*150insGCCACCATACCCACGCCGAAACAAGCGCTCATGAG...
NM_001160160.2:c.*149_*150insGCCACCATACCCACGCCGAAACAAGCGCTCATGAGCCCGAAGTGGCGAGCCCGATCTTCCCCATCGGTGATGTCGGCGATATAGGCGCCAGCAACCGCAC	NP_001153632.1:n.*149_*150insGCCACCATACCCACGCCGAAACAAGCGCTCAT...
NM_001354701.2:c.*149_*150insGCCACCATACCCACGCCGAAACAAGCGCTCATGAGCCCGAAGTGGCGAGCCCGATCTTCCCCATCGGTGATGTCGGCGATATAGGCGCCAGCAACCGCAC	NP_001341630.1:n.*149_*150insGCCACCATACCCACGCCGAAACAAGCGCTCAT...
NM_001099404.2:c.*149_*150insGCCACCATACCCACGCCGAAACAAGCGCTCATGAGCCCGAAGTGGCGAGCCCGATCTTCCCCATCGGTGATGTCGGCGATATAGGCGCCAGCAACCGCAC MANE Plus Clinical	NP_001092874.1:n.*149_*150insGCCACCATACCCACGCCGAAACAAGCGCTCAT...
NM_001099405.2:c.*149_*150insGCCACCATACCCACGCCGAAACAAGCGCTCATGAGCCCGAAGTGGCGAGCCCGATCTTCCCCATCGGTGATGTCGGCGATATAGGCGCCAGCAACCGCAC	NP_001092875.1:n.*149_*150insGCCACCATACCCACGCCGAAACAAGCGCTCAT...
NM_001160161.2:c.*149_*150insGCCACCATACCCACGCCGAAACAAGCGCTCATGAGCCCGAAGTGGCGAGCCCGATCTTCCCCATCGGTGATGTCGGCGATATAGGCGCCAGCAACCGCAC	NP_001153633.1:n.*149_*150insGCCACCATACCCACGCCGAAACAAGCGCTCAT...
NM_198056.3:c.*149_*150insGCCACCATACCCACGCCGAAACAAGCGCTCATGAGCCCGAAGTGGCGAGCCCGATCTTCCCCATCGGTGATGTCGGCGATATAGGCGCCAGCAACCGCAC	NP_932173.1:n.*149_*150insGCCACCATACCCACGCCGAAACAAGCGCTCATGAG...