Canonical Allele Identifier: CA064976

Gene: SCN5A

Linked Data

• dbSNP Id: rs199473639
• ExAC: 3:38591960 A / T
• gnomAD v2: 3-38591960-A-T
• gnomAD v4: 3-38550469-A-T
• MyVariant Identifiers: chr3:g.38591960A>T (hg19) ; chr3:g.38550469A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38550469A>T , CM000665.2:g.38550469A>T	GRCh38
NC_000003.11:g.38591960A>T , CM000665.1:g.38591960A>T	GRCh37
NC_000003.10:g.38566964A>T	NCBI36
NG_008934.1:g.104204T>A , LRG_289:g.104204T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000327956.7:c.5900T>A	ENSP00000333674.7:p.Ile1967Asn
ENST00000333535.9:c.5903T>A	ENSP00000328968.4:p.Ile1968Asn
ENST00000413689.6:c.5903T>A MANE Plus Clinical	ENSP00000410257.1:p.Ile1968Asn
ENST00000423572.7:c.5900T>A MANE Select	ENSP00000398266.2:p.Ile1967Asn
ENST00000333535.8:c.5903T>A	ENSP00000328968.4:p.Ile1968Asn
ENST00000413689.5:c.5903T>A	ENSP00000410257.1:p.Ile1968Asn
ENST00000414099.6:c.5849T>A	ENSP00000398962.2:p.Ile1950Asn
ENST00000423572.6:c.5900T>A	ENSP00000398266.2:p.Ile1967Asn
ENST00000425664.5:c.5849T>A	ENSP00000416634.1:p.Ile1950Asn
ENST00000449557.6:c.5741T>A	ENSP00000413996.2:p.Ile1914Asn
ENST00000450102.6:c.5741T>A	ENSP00000403355.2:p.Ile1914Asn
ENST00000451551.6:c.5741T>A	ENSP00000388797.2:p.Ile1914Asn
ENST00000455624.6:c.5804T>A	ENSP00000399524.2:p.Ile1935Asn
NM_000335.4:c.5900T>A , LRG_289t2:c.5900T>A	NP_000326.2:p.Ile1967Asn
NM_001099404.1:c.5903T>A , LRG_289t3:c.5903T>A	NP_001092874.1:p.Ile1968Asn
NM_001099405.1:c.5849T>A	NP_001092875.1:p.Ile1950Asn
NM_001160160.1:c.5804T>A	NP_001153632.1:p.Ile1935Asn
NM_001160161.1:c.5741T>A	NP_001153633.1:p.Ile1914Asn
NM_198056.2:c.5903T>A , LRG_289t1:c.5903T>A	NP_932173.1:p.Ile1968Asn
XM_006713282.2:c.5903T>A	XP_006713345.1:p.Ile1968Asn
XM_011533991.1:c.5900T>A	XP_011532293.1:p.Ile1967Asn
XM_011533992.1:c.5774T>A	XP_011532294.1:p.Ile1925Asn
NM_001354701.1:c.5846T>A	NP_001341630.1:p.Ile1949Asn
XM_011533991.2:c.5900T>A	XP_011532293.1:p.Ile1967Asn
XM_017007017.1:c.5741T>A	XP_016862506.1:p.Ile1914Asn
NM_000335.5:c.5900T>A MANE Select	NP_000326.2:p.Ile1967Asn
NM_001160160.2:c.5804T>A	NP_001153632.1:p.Ile1935Asn
NM_001354701.2:c.5846T>A	NP_001341630.1:p.Ile1949Asn
NM_001099404.2:c.5903T>A MANE Plus Clinical	NP_001092874.1:p.Ile1968Asn
NM_001099405.2:c.5849T>A	NP_001092875.1:p.Ile1950Asn
NM_001160161.2:c.5741T>A	NP_001153633.1:p.Ile1914Asn
NM_198056.3:c.5903T>A	NP_932173.1:p.Ile1968Asn