Canonical Allele Identifier: CA018558

Gene: SCN5A

Linked Data

• ClinVar Variation Id: 9406
• ClinVar RCV Id: RCV000010009 ; RCV000058706 ; RCV001258074 ; RCV003156212
• dbSNP Id: rs137854607
• gnomAD v4: 3-38554309-C-G
• MyVariant Identifiers: chr3:g.38595800C>G (hg19) ; chr3:g.38554309C>G (hg38)
• PubMed: PMID:11804990 ; PMID:15671429 ; PMID:18048769 ; PMID:22581653

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38554309C>G , CM000665.2:g.38554309C>G	GRCh38
NC_000003.11:g.38595800C>G , CM000665.1:g.38595800C>G	GRCh37
NC_000003.10:g.38570804C>G	NCBI36
NG_008934.1:g.100364G>C , LRG_289:g.100364G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327956.7:c.4780G>C	ENSP00000333674.7:p.Asp1594His
ENST00000333535.9:c.4783G>C	ENSP00000328968.4:p.Asp1595His
ENST00000413689.6:c.4783G>C MANE Plus Clinical	ENSP00000410257.1:p.Asp1595His
ENST00000423572.7:c.4780G>C MANE Select	ENSP00000398266.2:p.Asp1594His
ENST00000333535.8:c.4783G>C	ENSP00000328968.4:p.Asp1595His
ENST00000413689.5:c.4783G>C	ENSP00000410257.1:p.Asp1595His
ENST00000414099.6:c.4729G>C	ENSP00000398962.2:p.Asp1577His
ENST00000423572.6:c.4780G>C	ENSP00000398266.2:p.Asp1594His
ENST00000425664.5:c.4729G>C	ENSP00000416634.1:p.Asp1577His
ENST00000449557.6:c.4621G>C	ENSP00000413996.2:p.Asp1541His
ENST00000450102.6:c.4621G>C	ENSP00000403355.2:p.Asp1541His
ENST00000451551.6:c.4621G>C	ENSP00000388797.2:p.Asp1541His
ENST00000455624.6:c.4714+66G>C	ENSP00000399524.2:n.4714+66G>C
ENST00000464652.1:n.241G>C
NM_000335.4:c.4780G>C , LRG_289t2:c.4780G>C	NP_000326.2:p.Asp1594His
NM_001099404.1:c.4783G>C , LRG_289t3:c.4783G>C	NP_001092874.1:p.Asp1595His
NM_001099405.1:c.4729G>C	NP_001092875.1:p.Asp1577His
NM_001160160.1:c.4714+66G>C	NP_001153632.1:n.4714+66G>C
NM_001160161.1:c.4621G>C	NP_001153633.1:p.Asp1541His
NM_198056.2:c.4783G>C , LRG_289t1:c.4783G>C	NP_932173.1:p.Asp1595His
XM_006713282.2:c.4783G>C	XP_006713345.1:p.Asp1595His
XM_011533991.1:c.4780G>C	XP_011532293.1:p.Asp1594His
XM_011533992.1:c.4654G>C	XP_011532294.1:p.Asp1552His
NM_001354701.1:c.4726G>C	NP_001341630.1:p.Asp1576His
XM_011533991.2:c.4780G>C	XP_011532293.1:p.Asp1594His
XM_017007017.1:c.4621G>C	XP_016862506.1:p.Asp1541His
NM_000335.5:c.4780G>C MANE Select	NP_000326.2:p.Asp1594His
NM_001160160.2:c.4714+66G>C	NP_001153632.1:n.4714+66G>C
NM_001354701.2:c.4726G>C	NP_001341630.1:p.Asp1576His
NM_001099404.2:c.4783G>C MANE Plus Clinical	NP_001092874.1:p.Asp1595His
NM_001099405.2:c.4729G>C	NP_001092875.1:p.Asp1577His
NM_001160161.2:c.4621G>C	NP_001153633.1:p.Asp1541His
NM_198056.3:c.4783G>C	NP_932173.1:p.Asp1595His