Canonical Allele Identifier: CA065792

Gene: SCN5A

Linked Data

• dbSNP Id: rs753928487
• ExAC: 3:38651282 AGCCGTTGGT / A
• gnomAD v2: 3-38651282-AGCCGTTGGT-A
• gnomAD v3: 3-38609791-AGCCGTTGGT-A
• gnomAD v4: 3-38609791-AGCCGTTGGT-A
• MyVariant Identifiers: chr3:g.38651283_38651291del (hg19) ; chr3:g.38609792_38609800del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38609799_38609807del , CM000665.2:g.38609799_38609807del	GRCh38
NC_000003.11:g.38651290_38651298del , CM000665.1:g.38651290_38651298del	GRCh37
NC_000003.10:g.38626294_38626302del	NCBI36
NG_008934.1:g.44873_44881del , LRG_289:g.44873_44881del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327956.7:c.868_876del	ENSP00000333674.7:p.Thr290_Gly292del
ENST00000333535.9:c.868_876del	ENSP00000328968.4:p.Thr290_Gly292del
ENST00000413689.6:c.868_876del MANE Plus Clinical	ENSP00000410257.1:p.Thr290_Gly292del
ENST00000423572.7:c.868_876del MANE Select	ENSP00000398266.2:p.Thr290_Gly292del
ENST00000333535.8:c.868_876del	ENSP00000328968.4:p.Thr290_Gly292del
ENST00000413689.5:c.868_876del	ENSP00000410257.1:p.Thr290_Gly292del
ENST00000414099.6:c.868_876del	ENSP00000398962.2:p.Thr290_Gly292del
ENST00000423572.6:c.868_876del	ENSP00000398266.2:p.Thr290_Gly292del
ENST00000425664.5:c.868_876del	ENSP00000416634.1:p.Thr290_Gly292del
ENST00000449557.6:c.868_876del	ENSP00000413996.2:p.Thr290_Gly292del
ENST00000450102.6:c.868_876del	ENSP00000403355.2:p.Thr290_Gly292del
ENST00000451551.6:c.868_876del	ENSP00000388797.2:p.Thr290_Gly292del
ENST00000455624.6:c.868_876del	ENSP00000399524.2:p.Thr290_Gly292del
NM_000335.4:c.868_876del , LRG_289t2:c.868_876del	NP_000326.2:p.Thr290_Gly292del
NM_001099404.1:c.868_876del , LRG_289t3:c.868_876del	NP_001092874.1:p.Thr290_Gly292del
NM_001099405.1:c.868_876del	NP_001092875.1:p.Thr290_Gly292del
NM_001160160.1:c.868_876del	NP_001153632.1:p.Thr290_Gly292del
NM_001160161.1:c.868_876del	NP_001153633.1:p.Thr290_Gly292del
NM_198056.2:c.868_876del , LRG_289t1:c.868_876del	NP_932173.1:p.Thr290_Gly292del
XM_006713282.2:c.868_876del	XP_006713345.1:p.Thr290_Gly292del
XM_011533991.1:c.868_876del	XP_011532293.1:p.Thr290_Gly292del
XM_011533992.1:c.739_747del	XP_011532294.1:p.Thr247_Gly249del
NM_001354701.1:c.868_876del	NP_001341630.1:p.Thr290_Gly292del
XM_011533991.2:c.868_876del	XP_011532293.1:p.Thr290_Gly292del
XM_017007017.1:c.868_876del	XP_016862506.1:p.Thr290_Gly292del
NM_000335.5:c.868_876del MANE Select	NP_000326.2:p.Thr290_Gly292del
NM_001160160.2:c.868_876del	NP_001153632.1:p.Thr290_Gly292del
NM_001354701.2:c.868_876del	NP_001341630.1:p.Thr290_Gly292del
NM_001099404.2:c.868_876del MANE Plus Clinical	NP_001092874.1:p.Thr290_Gly292del
NM_001099405.2:c.868_876del	NP_001092875.1:p.Thr290_Gly292del
NM_001160161.2:c.868_876del	NP_001153633.1:p.Thr290_Gly292del
NM_198056.3:c.868_876del	NP_932173.1:p.Thr290_Gly292del