Canonical Allele Identifier: CA017562

Gene: SCN5A

Linked Data

• ClinVar Variation Id: 67831
• ClinVar RCV Id: RCV000058608 ; RCV000221645 ; RCV001842351 ; RCV003556151
• dbSNP Id: rs199473216
• gnomAD v4: 3-38562531-G-T
• MyVariant Identifiers: chr3:g.38604022G>T (hg19) ; chr3:g.38562531G>T (hg38)
• PubMed: PMID:19716085 ; PMID:22581653

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38562531G>T , CM000665.2:g.38562531G>T	GRCh38
NC_000003.11:g.38604022G>T , CM000665.1:g.38604022G>T	GRCh37
NC_000003.10:g.38579026G>T	NCBI36
NG_008934.1:g.92142C>A , LRG_289:g.92142C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327956.7:c.3844C>A	ENSP00000333674.7:p.Leu1282Met
ENST00000333535.9:c.3847C>A	ENSP00000328968.4:p.Leu1283Met
ENST00000413689.6:c.3847C>A MANE Plus Clinical	ENSP00000410257.1:p.Leu1283Met
ENST00000423572.7:c.3844C>A MANE Select	ENSP00000398266.2:p.Leu1282Met
ENST00000333535.8:c.3847C>A	ENSP00000328968.4:p.Leu1283Met
ENST00000413689.5:c.3847C>A	ENSP00000410257.1:p.Leu1283Met
ENST00000414099.6:c.3847C>A	ENSP00000398962.2:p.Leu1283Met
ENST00000423572.6:c.3844C>A	ENSP00000398266.2:p.Leu1282Met
ENST00000425664.5:c.3847C>A	ENSP00000416634.1:p.Leu1283Met
ENST00000449557.6:c.3685C>A	ENSP00000413996.2:p.Leu1229Met
ENST00000450102.6:c.3685C>A	ENSP00000403355.2:p.Leu1229Met
ENST00000451551.6:c.3685C>A	ENSP00000388797.2:p.Leu1229Met
ENST00000455624.6:c.3844C>A	ENSP00000399524.2:p.Leu1282Met
NM_000335.4:c.3844C>A , LRG_289t2:c.3844C>A	NP_000326.2:p.Leu1282Met
NM_001099404.1:c.3847C>A , LRG_289t3:c.3847C>A	NP_001092874.1:p.Leu1283Met
NM_001099405.1:c.3847C>A	NP_001092875.1:p.Leu1283Met
NM_001160160.1:c.3844C>A	NP_001153632.1:p.Leu1282Met
NM_001160161.1:c.3685C>A	NP_001153633.1:p.Leu1229Met
NM_198056.2:c.3847C>A , LRG_289t1:c.3847C>A	NP_932173.1:p.Leu1283Met
XM_006713282.2:c.3847C>A	XP_006713345.1:p.Leu1283Met
XM_011533991.1:c.3844C>A	XP_011532293.1:p.Leu1282Met
XM_011533992.1:c.3718C>A	XP_011532294.1:p.Leu1240Met
NM_001354701.1:c.3844C>A	NP_001341630.1:p.Leu1282Met
XM_011533991.2:c.3844C>A	XP_011532293.1:p.Leu1282Met
XM_017007017.1:c.3685C>A	XP_016862506.1:p.Leu1229Met
NM_000335.5:c.3844C>A MANE Select	NP_000326.2:p.Leu1282Met
NM_001160160.2:c.3844C>A	NP_001153632.1:p.Leu1282Met
NM_001354701.2:c.3844C>A	NP_001341630.1:p.Leu1282Met
NM_001099404.2:c.3847C>A MANE Plus Clinical	NP_001092874.1:p.Leu1283Met
NM_001099405.2:c.3847C>A	NP_001092875.1:p.Leu1283Met
NM_001160161.2:c.3685C>A	NP_001153633.1:p.Leu1229Met
NM_198056.3:c.3847C>A	NP_932173.1:p.Leu1283Met