Canonical Allele Identifier: CA018670

Gene: SCN5A

Linked Data

• ClinVar Variation Id: 9376
• ClinVar RCV Id: RCV000009970 ; RCV000009971 ; RCV000058716 ; RCV001588806
• dbSNP Id: rs137854600
• MyVariant Identifiers: chr3:g.38592995C>T (hg19) ; chr3:g.38551504C>T (hg38)
• PubMed: PMID:9495298 ; PMID:9506831 ; PMID:10772658 ; PMID:10973849 ; PMID:12574983 ; PMID:15051636 ; PMID:15184283 ; PMID:16922724 ; PMID:19167409 ; PMID:19716085 ; PMID:19841300 ; PMID:20090423 ; PMID:22581653

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38551504C>T , CM000665.2:g.38551504C>T	GRCh38
NC_000003.11:g.38592995C>T , CM000665.1:g.38592995C>T	GRCh37
NC_000003.10:g.38567999C>T	NCBI36
NG_008934.1:g.103169G>A , LRG_289:g.103169G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327956.7:c.4865G>A	ENSP00000333674.7:p.Arg1622Gln
ENST00000333535.9:c.4868G>A	ENSP00000328968.4:p.Arg1623Gln
ENST00000413689.6:c.4868G>A MANE Plus Clinical	ENSP00000410257.1:p.Arg1623Gln
ENST00000423572.7:c.4865G>A MANE Select	ENSP00000398266.2:p.Arg1622Gln
ENST00000333535.8:c.4868G>A	ENSP00000328968.4:p.Arg1623Gln
ENST00000413689.5:c.4868G>A	ENSP00000410257.1:p.Arg1623Gln
ENST00000414099.6:c.4814G>A	ENSP00000398962.2:p.Arg1605Gln
ENST00000423572.6:c.4865G>A	ENSP00000398266.2:p.Arg1622Gln
ENST00000425664.5:c.4814G>A	ENSP00000416634.1:p.Arg1605Gln
ENST00000449557.6:c.4706G>A	ENSP00000413996.2:p.Arg1569Gln
ENST00000450102.6:c.4706G>A	ENSP00000403355.2:p.Arg1569Gln
ENST00000451551.6:c.4706G>A	ENSP00000388797.2:p.Arg1569Gln
ENST00000455624.6:c.4769G>A	ENSP00000399524.2:p.Arg1590Gln
NM_000335.4:c.4865G>A , LRG_289t2:c.4865G>A	NP_000326.2:p.Arg1622Gln
NM_001099404.1:c.4868G>A , LRG_289t3:c.4868G>A	NP_001092874.1:p.Arg1623Gln
NM_001099405.1:c.4814G>A	NP_001092875.1:p.Arg1605Gln
NM_001160160.1:c.4769G>A	NP_001153632.1:p.Arg1590Gln
NM_001160161.1:c.4706G>A	NP_001153633.1:p.Arg1569Gln
NM_198056.2:c.4868G>A , LRG_289t1:c.4868G>A	NP_932173.1:p.Arg1623Gln
XM_006713282.2:c.4868G>A	XP_006713345.1:p.Arg1623Gln
XM_011533991.1:c.4865G>A	XP_011532293.1:p.Arg1622Gln
XM_011533992.1:c.4739G>A	XP_011532294.1:p.Arg1580Gln
NM_001354701.1:c.4811G>A	NP_001341630.1:p.Arg1604Gln
XM_011533991.2:c.4865G>A	XP_011532293.1:p.Arg1622Gln
XM_017007017.1:c.4706G>A	XP_016862506.1:p.Arg1569Gln
NM_000335.5:c.4865G>A MANE Select	NP_000326.2:p.Arg1622Gln
NM_001160160.2:c.4769G>A	NP_001153632.1:p.Arg1590Gln
NM_001354701.2:c.4811G>A	NP_001341630.1:p.Arg1604Gln
NM_001099404.2:c.4868G>A MANE Plus Clinical	NP_001092874.1:p.Arg1623Gln
NM_001099405.2:c.4814G>A	NP_001092875.1:p.Arg1605Gln
NM_001160161.2:c.4706G>A	NP_001153633.1:p.Arg1569Gln
NM_198056.3:c.4868G>A	NP_932173.1:p.Arg1623Gln