Canonical Allele Identifier: CA352140863

Gene: SCN5A

Linked Data

• dbSNP Id: rs1201716451
• gnomAD v2: 3-38592310-C-T
• gnomAD v3: 3-38550819-C-T
• gnomAD v4: 3-38550819-C-T
• COSMIC: COSM4893204 ; COSM4893205 ; COSM4893206
• MyVariant Identifiers: chr3:g.38592310C>T (hg19) ; chr3:g.38550819C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38550819C>T , CM000665.2:g.38550819C>T	GRCh38
NC_000003.11:g.38592310C>T , CM000665.1:g.38592310C>T	GRCh37
NC_000003.10:g.38567314C>T	NCBI36
NG_008934.1:g.103854G>A , LRG_289:g.103854G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327956.7:c.5550G>A	ENSP00000333674.7:p.Met1850Ile
ENST00000333535.9:c.5553G>A	ENSP00000328968.4:p.Met1851Ile
ENST00000413689.6:c.5553G>A MANE Plus Clinical	ENSP00000410257.1:p.Met1851Ile
ENST00000423572.7:c.5550G>A MANE Select	ENSP00000398266.2:p.Met1850Ile
ENST00000333535.8:c.5553G>A	ENSP00000328968.4:p.Met1851Ile
ENST00000413689.5:c.5553G>A	ENSP00000410257.1:p.Met1851Ile
ENST00000414099.6:c.5499G>A	ENSP00000398962.2:p.Met1833Ile
ENST00000423572.6:c.5550G>A	ENSP00000398266.2:p.Met1850Ile
ENST00000425664.5:c.5499G>A	ENSP00000416634.1:p.Met1833Ile
ENST00000449557.6:c.5391G>A	ENSP00000413996.2:p.Met1797Ile
ENST00000450102.6:c.5391G>A	ENSP00000403355.2:p.Met1797Ile
ENST00000451551.6:c.5391G>A	ENSP00000388797.2:p.Met1797Ile
ENST00000455624.6:c.5454G>A	ENSP00000399524.2:p.Met1818Ile
NM_000335.4:c.5550G>A , LRG_289t2:c.5550G>A	NP_000326.2:p.Met1850Ile
NM_001099404.1:c.5553G>A , LRG_289t3:c.5553G>A	NP_001092874.1:p.Met1851Ile
NM_001099405.1:c.5499G>A	NP_001092875.1:p.Met1833Ile
NM_001160160.1:c.5454G>A	NP_001153632.1:p.Met1818Ile
NM_001160161.1:c.5391G>A	NP_001153633.1:p.Met1797Ile
NM_198056.2:c.5553G>A , LRG_289t1:c.5553G>A	NP_932173.1:p.Met1851Ile
XM_006713282.2:c.5553G>A	XP_006713345.1:p.Met1851Ile
XM_011533991.1:c.5550G>A	XP_011532293.1:p.Met1850Ile
XM_011533992.1:c.5424G>A	XP_011532294.1:p.Met1808Ile
NM_001354701.1:c.5496G>A	NP_001341630.1:p.Met1832Ile
XM_011533991.2:c.5550G>A	XP_011532293.1:p.Met1850Ile
XM_017007017.1:c.5391G>A	XP_016862506.1:p.Met1797Ile
NM_000335.5:c.5550G>A MANE Select	NP_000326.2:p.Met1850Ile
NM_001160160.2:c.5454G>A	NP_001153632.1:p.Met1818Ile
NM_001354701.2:c.5496G>A	NP_001341630.1:p.Met1832Ile
NM_001099404.2:c.5553G>A MANE Plus Clinical	NP_001092874.1:p.Met1851Ile
NM_001099405.2:c.5499G>A	NP_001092875.1:p.Met1833Ile
NM_001160161.2:c.5391G>A	NP_001153633.1:p.Met1797Ile
NM_198056.3:c.5553G>A	NP_932173.1:p.Met1851Ile