Canonical Allele Identifier: CA019158

Gene: SCN5A

Linked Data

• ClinVar Variation Id: 67988
• ClinVar RCV Id: RCV000058775 ; RCV000148840 ; RCV000154835 ; RCV000474591 ; RCV000621224 ; RCV000987199 ; RCV001144221 ; RCV001144218 ; RCV001144219 ; RCV001144220 ; RCV001842385
• dbSNP Id: rs199473316
• ExAC: 3:38592503 C / T
• gnomAD v2: 3-38592503-C-T
• gnomAD v3: 3-38551012-C-T
• gnomAD v4: 3-38551012-C-T
• MyVariant Identifiers: chr3:g.38592503C>T (hg19) ; chr3:g.38551012C>T (hg38)
• PubMed: PMID:10973849 ; PMID:15851227 ; PMID:16414944 ; PMID:19841300 ; PMID:20129283 ; PMID:22373669 ; PMID:22378279 ; PMID:22581653 ; PMID:23503384 ; PMID:23861362 ; PMID:24055113 ; PMID:25351510 ; PMID:25637381 ; PMID:26159999 ; PMID:28069705

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38551012C>T , CM000665.2:g.38551012C>T	GRCh38
NC_000003.11:g.38592503C>T , CM000665.1:g.38592503C>T	GRCh37
NC_000003.10:g.38567507C>T	NCBI36
NG_008934.1:g.103661G>A , LRG_289:g.103661G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327956.7:c.5357G>A	ENSP00000333674.7:p.Ser1786Asn
ENST00000333535.9:c.5360G>A	ENSP00000328968.4:p.Ser1787Asn
ENST00000413689.6:c.5360G>A MANE Plus Clinical	ENSP00000410257.1:p.Ser1787Asn
ENST00000423572.7:c.5357G>A MANE Select	ENSP00000398266.2:p.Ser1786Asn
ENST00000333535.8:c.5360G>A	ENSP00000328968.4:p.Ser1787Asn
ENST00000413689.5:c.5360G>A	ENSP00000410257.1:p.Ser1787Asn
ENST00000414099.6:c.5306G>A	ENSP00000398962.2:p.Ser1769Asn
ENST00000423572.6:c.5357G>A	ENSP00000398266.2:p.Ser1786Asn
ENST00000425664.5:c.5306G>A	ENSP00000416634.1:p.Ser1769Asn
ENST00000449557.6:c.5198G>A	ENSP00000413996.2:p.Ser1733Asn
ENST00000450102.6:c.5198G>A	ENSP00000403355.2:p.Ser1733Asn
ENST00000451551.6:c.5198G>A	ENSP00000388797.2:p.Ser1733Asn
ENST00000455624.6:c.5261G>A	ENSP00000399524.2:p.Ser1754Asn
NM_000335.4:c.5357G>A , LRG_289t2:c.5357G>A	NP_000326.2:p.Ser1786Asn
NM_001099404.1:c.5360G>A , LRG_289t3:c.5360G>A	NP_001092874.1:p.Ser1787Asn
NM_001099405.1:c.5306G>A	NP_001092875.1:p.Ser1769Asn
NM_001160160.1:c.5261G>A	NP_001153632.1:p.Ser1754Asn
NM_001160161.1:c.5198G>A	NP_001153633.1:p.Ser1733Asn
NM_198056.2:c.5360G>A , LRG_289t1:c.5360G>A	NP_932173.1:p.Ser1787Asn
XM_006713282.2:c.5360G>A	XP_006713345.1:p.Ser1787Asn
XM_011533991.1:c.5357G>A	XP_011532293.1:p.Ser1786Asn
XM_011533992.1:c.5231G>A	XP_011532294.1:p.Ser1744Asn
NM_001354701.1:c.5303G>A	NP_001341630.1:p.Ser1768Asn
XM_011533991.2:c.5357G>A	XP_011532293.1:p.Ser1786Asn
XM_017007017.1:c.5198G>A	XP_016862506.1:p.Ser1733Asn
NM_000335.5:c.5357G>A MANE Select	NP_000326.2:p.Ser1786Asn
NM_001160160.2:c.5261G>A	NP_001153632.1:p.Ser1754Asn
NM_001354701.2:c.5303G>A	NP_001341630.1:p.Ser1768Asn
NM_001099404.2:c.5360G>A MANE Plus Clinical	NP_001092874.1:p.Ser1787Asn
NM_001099405.2:c.5306G>A	NP_001092875.1:p.Ser1769Asn
NM_001160161.2:c.5198G>A	NP_001153633.1:p.Ser1733Asn
NM_198056.3:c.5360G>A	NP_932173.1:p.Ser1787Asn