Canonical Allele Identifier: CA353758

Gene: SCN5A

Linked Data

• ClinVar Variation Id: 68003
• ClinVar RCV Id: RCV000058797 ; RCV000148859 ; RCV000825448 ; RCV000765733 ; RCV000852547 ; RCV000987197 ; RCV001842389 ; RCV003486636 ; RCV004017380
• dbSNP Id: rs45465995
• ExAC: 3:38592174 G / A
• gnomAD v2: 3-38592174-G-A
• gnomAD v3: 3-38550683-G-A
• gnomAD v4: 3-38550683-G-A
• MyVariant Identifiers: chr3:g.38592174G>A (hg19) ; chr3:g.38592174_38592176delinsAGA (hg19) ; chr3:g.38550683G>A (hg38) ; chr3:g.38550683_38550685delinsAGA (hg38)
• PubMed: PMID:19716085 ; PMID:20981092 ; PMID:22581653 ; PMID:22685113

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38550683G>A , CM000665.2:g.38550683G>A	GRCh38
NC_000003.11:g.38592174G>A , CM000665.1:g.38592174G>A	GRCh37
NC_000003.10:g.38567178G>A	NCBI36
NG_008934.1:g.103990C>T , LRG_289:g.103990C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327956.7:c.5686C>T	ENSP00000333674.7:p.Arg1896Trp
ENST00000333535.9:c.5689C>T	ENSP00000328968.4:p.Arg1897Trp
ENST00000413689.6:c.5689C>T MANE Plus Clinical	ENSP00000410257.1:p.Arg1897Trp
ENST00000423572.7:c.5686C>T MANE Select	ENSP00000398266.2:p.Arg1896Trp
ENST00000333535.8:c.5689C>T	ENSP00000328968.4:p.Arg1897Trp
ENST00000413689.5:c.5689C>T	ENSP00000410257.1:p.Arg1897Trp
ENST00000414099.6:c.5635C>T	ENSP00000398962.2:p.Arg1879Trp
ENST00000423572.6:c.5686C>T	ENSP00000398266.2:p.Arg1896Trp
ENST00000425664.5:c.5635C>T	ENSP00000416634.1:p.Arg1879Trp
ENST00000449557.6:c.5527C>T	ENSP00000413996.2:p.Arg1843Trp
ENST00000450102.6:c.5527C>T	ENSP00000403355.2:p.Arg1843Trp
ENST00000451551.6:c.5527C>T	ENSP00000388797.2:p.Arg1843Trp
ENST00000455624.6:c.5590C>T	ENSP00000399524.2:p.Arg1864Trp
NM_000335.4:c.5686C>T , LRG_289t2:c.5686C>T	NP_000326.2:p.Arg1896Trp
NM_001099404.1:c.5689C>T , LRG_289t3:c.5689C>T	NP_001092874.1:p.Arg1897Trp
NM_001099405.1:c.5635C>T	NP_001092875.1:p.Arg1879Trp
NM_001160160.1:c.5590C>T	NP_001153632.1:p.Arg1864Trp
NM_001160161.1:c.5527C>T	NP_001153633.1:p.Arg1843Trp
NM_198056.2:c.5689C>T , LRG_289t1:c.5689C>T	NP_932173.1:p.Arg1897Trp
XM_006713282.2:c.5689C>T	XP_006713345.1:p.Arg1897Trp
XM_011533991.1:c.5686C>T	XP_011532293.1:p.Arg1896Trp
XM_011533992.1:c.5560C>T	XP_011532294.1:p.Arg1854Trp
NM_001354701.1:c.5632C>T	NP_001341630.1:p.Arg1878Trp
XM_011533991.2:c.5686C>T	XP_011532293.1:p.Arg1896Trp
XM_017007017.1:c.5527C>T	XP_016862506.1:p.Arg1843Trp
NM_000335.5:c.5686C>T MANE Select	NP_000326.2:p.Arg1896Trp
NM_001160160.2:c.5590C>T	NP_001153632.1:p.Arg1864Trp
NM_001354701.2:c.5632C>T	NP_001341630.1:p.Arg1878Trp
NM_001099404.2:c.5689C>T MANE Plus Clinical	NP_001092874.1:p.Arg1897Trp
NM_001099405.2:c.5635C>T	NP_001092875.1:p.Arg1879Trp
NM_001160161.2:c.5527C>T	NP_001153633.1:p.Arg1843Trp
NM_198056.3:c.5689C>T	NP_932173.1:p.Arg1897Trp