Canonical Allele Identifier: CA019212

Gene: SCN5A

Linked Data

• ClinVar Variation Id: 67990
• ClinVar RCV Id: RCV000058780 ; RCV000256160
• dbSNP Id: rs199473318
• MyVariant Identifiers: chr3:g.38592458T>C (hg19) ; chr3:g.38550967T>C (hg38)
• PubMed: PMID:10627139 ; PMID:22581653

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38550967T>C , CM000665.2:g.38550967T>C	GRCh38
NC_000003.11:g.38592458T>C , CM000665.1:g.38592458T>C	GRCh37
NC_000003.10:g.38567462T>C	NCBI36
NG_008934.1:g.103706A>G , LRG_289:g.103706A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000327956.7:c.5402A>G	ENSP00000333674.7:p.Asp1801Gly
ENST00000333535.9:c.5405A>G	ENSP00000328968.4:p.Asp1802Gly
ENST00000413689.6:c.5405A>G MANE Plus Clinical	ENSP00000410257.1:p.Asp1802Gly
ENST00000423572.7:c.5402A>G MANE Select	ENSP00000398266.2:p.Asp1801Gly
ENST00000333535.8:c.5405A>G	ENSP00000328968.4:p.Asp1802Gly
ENST00000413689.5:c.5405A>G	ENSP00000410257.1:p.Asp1802Gly
ENST00000414099.6:c.5351A>G	ENSP00000398962.2:p.Asp1784Gly
ENST00000423572.6:c.5402A>G	ENSP00000398266.2:p.Asp1801Gly
ENST00000425664.5:c.5351A>G	ENSP00000416634.1:p.Asp1784Gly
ENST00000449557.6:c.5243A>G	ENSP00000413996.2:p.Asp1748Gly
ENST00000450102.6:c.5243A>G	ENSP00000403355.2:p.Asp1748Gly
ENST00000451551.6:c.5243A>G	ENSP00000388797.2:p.Asp1748Gly
ENST00000455624.6:c.5306A>G	ENSP00000399524.2:p.Asp1769Gly
NM_000335.4:c.5402A>G , LRG_289t2:c.5402A>G	NP_000326.2:p.Asp1801Gly
NM_001099404.1:c.5405A>G , LRG_289t3:c.5405A>G	NP_001092874.1:p.Asp1802Gly
NM_001099405.1:c.5351A>G	NP_001092875.1:p.Asp1784Gly
NM_001160160.1:c.5306A>G	NP_001153632.1:p.Asp1769Gly
NM_001160161.1:c.5243A>G	NP_001153633.1:p.Asp1748Gly
NM_198056.2:c.5405A>G , LRG_289t1:c.5405A>G	NP_932173.1:p.Asp1802Gly
XM_006713282.2:c.5405A>G	XP_006713345.1:p.Asp1802Gly
XM_011533991.1:c.5402A>G	XP_011532293.1:p.Asp1801Gly
XM_011533992.1:c.5276A>G	XP_011532294.1:p.Asp1759Gly
NM_001354701.1:c.5348A>G	NP_001341630.1:p.Asp1783Gly
XM_011533991.2:c.5402A>G	XP_011532293.1:p.Asp1801Gly
XM_017007017.1:c.5243A>G	XP_016862506.1:p.Asp1748Gly
NM_000335.5:c.5402A>G MANE Select	NP_000326.2:p.Asp1801Gly
NM_001160160.2:c.5306A>G	NP_001153632.1:p.Asp1769Gly
NM_001354701.2:c.5348A>G	NP_001341630.1:p.Asp1783Gly
NM_001099404.2:c.5405A>G MANE Plus Clinical	NP_001092874.1:p.Asp1802Gly
NM_001099405.2:c.5351A>G	NP_001092875.1:p.Asp1784Gly
NM_001160161.2:c.5243A>G	NP_001153633.1:p.Asp1748Gly
NM_198056.3:c.5405A>G	NP_932173.1:p.Asp1802Gly