Canonical Allele Identifier: CA1047004071

Gene: SCN5A

Linked Data

• gnomAD v3: 3-38581372-C-CACAAGGTTGCCAA
• gnomAD v4: 3-38581372-C-CACAAGGTTGCCAA

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38581372_38581373insACAAGGTTGCCAA , CM000665.2:g.38581372_38581373insACAAGGTTGCCAA	GRCh38
NC_000003.11:g.38622863_38622864insACAAGGTTGCCAA , CM000665.1:g.38622863_38622864insACAAGGTTGCCAA	GRCh37
NC_000003.10:g.38597867_38597868insACAAGGTTGCCAA	NCBI36
NG_008934.1:g.73300_73301insTTGGCAACCTTGT , LRG_289:g.73300_73301insTTGGCAACCTTGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327956.7:c.2788-2_2788-1insTTGGCAACCTTGT	ENSP00000333674.7:n.2788-2_2788-1insTTGGCAACCTTGT
ENST00000333535.9:c.2788-2_2788-1insTTGGCAACCTTGT	ENSP00000328968.4:n.2788-2_2788-1insTTGGCAACCTTGT
ENST00000413689.6:c.2788-2_2788-1insTTGGCAACCTTGT MANE Plus Clinical	ENSP00000410257.1:n.2788-2_2788-1insTTGGCAACCTTGT
ENST00000423572.7:c.2788-2_2788-1insTTGGCAACCTTGT MANE Select	ENSP00000398266.2:n.2788-2_2788-1insTTGGCAACCTTGT
ENST00000333535.8:c.2788-2_2788-1insTTGGCAACCTTGT	ENSP00000328968.4:n.2788-2_2788-1insTTGGCAACCTTGT
ENST00000413689.5:c.2788-2_2788-1insTTGGCAACCTTGT	ENSP00000410257.1:n.2788-2_2788-1insTTGGCAACCTTGT
ENST00000414099.6:c.2788-2_2788-1insTTGGCAACCTTGT	ENSP00000398962.2:n.2788-2_2788-1insTTGGCAACCTTGT
ENST00000423572.6:c.2788-2_2788-1insTTGGCAACCTTGT	ENSP00000398266.2:n.2788-2_2788-1insTTGGCAACCTTGT
ENST00000425664.5:c.2788-2_2788-1insTTGGCAACCTTGT	ENSP00000416634.1:n.2788-2_2788-1insTTGGCAACCTTGT
ENST00000449557.6:c.2788-2_2788-1insTTGGCAACCTTGT	ENSP00000413996.2:n.2788-2_2788-1insTTGGCAACCTTGT
ENST00000450102.6:c.2788-2_2788-1insTTGGCAACCTTGT	ENSP00000403355.2:n.2788-2_2788-1insTTGGCAACCTTGT
ENST00000451551.6:c.2788-2_2788-1insTTGGCAACCTTGT	ENSP00000388797.2:n.2788-2_2788-1insTTGGCAACCTTGT
ENST00000455624.6:c.2788-2_2788-1insTTGGCAACCTTGT	ENSP00000399524.2:n.2788-2_2788-1insTTGGCAACCTTGT
NM_000335.4:c.2788-2_2788-1insTTGGCAACCTTGT , LRG_289t2:c.2788-2_2788-1insTTGGCAACCTTGT	NP_000326.2:n.2788-2_2788-1insTTGGCAACCTTGT
NM_001099404.1:c.2788-2_2788-1insTTGGCAACCTTGT , LRG_289t3:c.2788-2_2788-1insTTGGCAACCTTGT	NP_001092874.1:n.2788-2_2788-1insTTGGCAACCTTGT
NM_001099405.1:c.2788-2_2788-1insTTGGCAACCTTGT	NP_001092875.1:n.2788-2_2788-1insTTGGCAACCTTGT
NM_001160160.1:c.2788-2_2788-1insTTGGCAACCTTGT	NP_001153632.1:n.2788-2_2788-1insTTGGCAACCTTGT
NM_001160161.1:c.2788-2_2788-1insTTGGCAACCTTGT	NP_001153633.1:n.2788-2_2788-1insTTGGCAACCTTGT
NM_198056.2:c.2788-2_2788-1insTTGGCAACCTTGT , LRG_289t1:c.2788-2_2788-1insTTGGCAACCTTGT	NP_932173.1:n.2788-2_2788-1insTTGGCAACCTTGT
XM_006713282.2:c.2788-2_2788-1insTTGGCAACCTTGT	XP_006713345.1:n.2788-2_2788-1insTTGGCAACCTTGT
XM_011533991.1:c.2788-2_2788-1insTTGGCAACCTTGT	XP_011532293.1:n.2788-2_2788-1insTTGGCAACCTTGT
XM_011533992.1:c.2659-2_2659-1insTTGGCAACCTTGT	XP_011532294.1:n.2659-2_2659-1insTTGGCAACCTTGT
NM_001354701.1:c.2788-2_2788-1insTTGGCAACCTTGT	NP_001341630.1:n.2788-2_2788-1insTTGGCAACCTTGT
XM_011533991.2:c.2788-2_2788-1insTTGGCAACCTTGT	XP_011532293.1:n.2788-2_2788-1insTTGGCAACCTTGT
XM_017007017.1:c.2788-2_2788-1insTTGGCAACCTTGT	XP_016862506.1:n.2788-2_2788-1insTTGGCAACCTTGT
NM_000335.5:c.2788-2_2788-1insTTGGCAACCTTGT MANE Select	NP_000326.2:n.2788-2_2788-1insTTGGCAACCTTGT
NM_001160160.2:c.2788-2_2788-1insTTGGCAACCTTGT	NP_001153632.1:n.2788-2_2788-1insTTGGCAACCTTGT
NM_001354701.2:c.2788-2_2788-1insTTGGCAACCTTGT	NP_001341630.1:n.2788-2_2788-1insTTGGCAACCTTGT
NM_001099404.2:c.2788-2_2788-1insTTGGCAACCTTGT MANE Plus Clinical	NP_001092874.1:n.2788-2_2788-1insTTGGCAACCTTGT
NM_001099405.2:c.2788-2_2788-1insTTGGCAACCTTGT	NP_001092875.1:n.2788-2_2788-1insTTGGCAACCTTGT
NM_001160161.2:c.2788-2_2788-1insTTGGCAACCTTGT	NP_001153633.1:n.2788-2_2788-1insTTGGCAACCTTGT
NM_198056.3:c.2788-2_2788-1insTTGGCAACCTTGT	NP_932173.1:n.2788-2_2788-1insTTGGCAACCTTGT