Canonical Allele Identifier: CA019704

Gene: SCN5A

Linked Data

• ClinVar Variation Id: 39444
• ClinVar RCV Id: RCV000032639 ; RCV000058833 ; RCV000211852 ; RCV000182941 ; RCV000678965 ; RCV000763109
• dbSNP Id: rs45546039
• gnomAD v3: 3-38613781-C-T
• gnomAD v4: 3-38613781-C-T
• MyVariant Identifiers: chr3:g.38655272C>T (hg19) ; chr3:g.38613781C>T (hg38)
• PubMed: PMID:19412328 ; PMID:19716085 ; PMID:20129283 ; PMID:20458009 ; PMID:21167004 ; PMID:21596231 ; PMID:22277643 ; PMID:22581653 ; PMID:22710484 ; PMID:22766342 ; PMID:22999724

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38613781C>T , CM000665.2:g.38613781C>T	GRCh38
NC_000003.11:g.38655272C>T , CM000665.1:g.38655272C>T	GRCh37
NC_000003.10:g.38630276C>T	NCBI36
NG_008934.1:g.40892G>A , LRG_289:g.40892G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327956.7:c.665G>A	ENSP00000333674.7:p.Arg222Gln
ENST00000333535.9:c.665G>A	ENSP00000328968.4:p.Arg222Gln
ENST00000413689.6:c.703+194G>A MANE Plus Clinical	ENSP00000410257.1:n.703+194G>A
ENST00000423572.7:c.665G>A MANE Select	ENSP00000398266.2:p.Arg222Gln
ENST00000333535.8:c.665G>A	ENSP00000328968.4:p.Arg222Gln
ENST00000413689.5:c.703+194G>A	ENSP00000410257.1:n.703+194G>A
ENST00000414099.6:c.703+194G>A	ENSP00000398962.2:n.703+194G>A
ENST00000423572.6:c.665G>A	ENSP00000398266.2:p.Arg222Gln
ENST00000425664.5:c.703+194G>A	ENSP00000416634.1:n.703+194G>A
ENST00000449557.6:c.665G>A	ENSP00000413996.2:p.Arg222Gln
ENST00000450102.6:c.703+194G>A	ENSP00000403355.2:n.703+194G>A
ENST00000451551.6:c.703+194G>A	ENSP00000388797.2:n.703+194G>A
ENST00000455624.6:c.703+194G>A	ENSP00000399524.2:n.703+194G>A
NM_000335.4:c.665G>A , LRG_289t2:c.665G>A	NP_000326.2:p.Arg222Gln
NM_001099404.1:c.703+194G>A , LRG_289t3:c.703+194G>A	NP_001092874.1:n.703+194G>A
NM_001099405.1:c.703+194G>A	NP_001092875.1:n.703+194G>A
NM_001160160.1:c.703+194G>A	NP_001153632.1:n.703+194G>A
NM_001160161.1:c.703+194G>A	NP_001153633.1:n.703+194G>A
NM_198056.2:c.665G>A , LRG_289t1:c.665G>A	NP_932173.1:p.Arg222Gln
XM_006713282.2:c.665G>A	XP_006713345.1:p.Arg222Gln
XM_011533991.1:c.703+194G>A	XP_011532293.1:n.703+194G>A
XM_011533992.1:c.536G>A	XP_011532294.1:p.Arg179Gln
NM_001354701.1:c.703+194G>A	NP_001341630.1:n.703+194G>A
XM_011533991.2:c.703+194G>A	XP_011532293.1:n.703+194G>A
XM_017007017.1:c.665G>A	XP_016862506.1:p.Arg222Gln
NM_000335.5:c.665G>A MANE Select	NP_000326.2:p.Arg222Gln
NM_001160160.2:c.703+194G>A	NP_001153632.1:n.703+194G>A
NM_001354701.2:c.703+194G>A	NP_001341630.1:n.703+194G>A
NM_001099404.2:c.703+194G>A MANE Plus Clinical	NP_001092874.1:n.703+194G>A
NM_001099405.2:c.703+194G>A	NP_001092875.1:n.703+194G>A
NM_001160161.2:c.703+194G>A	NP_001153633.1:n.703+194G>A
NM_198056.3:c.665G>A	NP_932173.1:p.Arg222Gln