Canonical Allele Identifier: CA017028

Gene: SCN5A

Linked Data

• ClinVar Variation Id: 9393
• ClinVar RCV Id: RCV000009992 ; RCV000009993 ; RCV000058563 ; RCV000041615 ; RCV000204216 ; RCV000274325 ; RCV000304064 ; RCV000363449 ; RCV000368908 ; RCV000396768 ; RCV000621429 ; RCV000755696 ; RCV001094834 ; RCV001841239 ; RCV003125829 ; RCV003149567 ; RCV002504776
• dbSNP Id: rs7626962
• ExAC: 3:38620907 G / T
• gnomAD v2: 3-38620907-G-T
• gnomAD v3: 3-38579416-G-T
• gnomAD v4: 3-38579416-G-T
• MyVariant Identifiers: chr3:g.38620907G>T (hg19) ; chr3:g.38579416G>T (hg38)
• PubMed: PMID:12193783 ; PMID:12471205 ; PMID:15161528 ; PMID:15851227 ; PMID:15992732 ; PMID:16061744 ; PMID:16453024 ; PMID:16731473 ; PMID:16922724 ; PMID:17185997 ; PMID:17275750 ; PMID:17967976 ; PMID:18378609 ; PMID:18452875 ; PMID:19305408 ; PMID:19305409 ; PMID:19841300 ; PMID:20129283 ; PMID:20403459 ; PMID:20470418 ; PMID:21325150 ; PMID:21385947 ; PMID:21498565 ; PMID:22581653 ; PMID:23861362 ; PMID:24332150 ; PMID:24951663 ; PMID:25065297 ; PMID:29431662

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38579416G>T , CM000665.2:g.38579416G>T	GRCh38
NC_000003.11:g.38620907G>T , CM000665.1:g.38620907G>T	GRCh37
NC_000003.10:g.38595911G>T	NCBI36
NG_008934.1:g.75257C>A , LRG_289:g.75257C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327956.7:c.3305C>A	ENSP00000333674.7:p.Ser1102Tyr
ENST00000333535.9:c.3308C>A	ENSP00000328968.4:p.Ser1103Tyr
ENST00000413689.6:c.3308C>A MANE Plus Clinical	ENSP00000410257.1:p.Ser1103Tyr
ENST00000423572.7:c.3305C>A MANE Select	ENSP00000398266.2:p.Ser1102Tyr
ENST00000333535.8:c.3308C>A	ENSP00000328968.4:p.Ser1103Tyr
ENST00000413689.5:c.3308C>A	ENSP00000410257.1:p.Ser1103Tyr
ENST00000414099.6:c.3308C>A	ENSP00000398962.2:p.Ser1103Tyr
ENST00000423572.6:c.3305C>A	ENSP00000398266.2:p.Ser1102Tyr
ENST00000425664.5:c.3308C>A	ENSP00000416634.1:p.Ser1103Tyr
ENST00000449557.6:c.3228+1515C>A	ENSP00000413996.2:n.3228+1515C>A
ENST00000450102.6:c.3228+1515C>A	ENSP00000403355.2:n.3228+1515C>A
ENST00000451551.6:c.3228+1515C>A	ENSP00000388797.2:n.3228+1515C>A
ENST00000455624.6:c.3305C>A	ENSP00000399524.2:p.Ser1102Tyr
NM_000335.4:c.3305C>A , LRG_289t2:c.3305C>A	NP_000326.2:p.Ser1102Tyr
NM_001099404.1:c.3308C>A , LRG_289t3:c.3308C>A	NP_001092874.1:p.Ser1103Tyr
NM_001099405.1:c.3308C>A	NP_001092875.1:p.Ser1103Tyr
NM_001160160.1:c.3305C>A	NP_001153632.1:p.Ser1102Tyr
NM_001160161.1:c.3228+1515C>A	NP_001153633.1:n.3228+1515C>A
NM_198056.2:c.3308C>A , LRG_289t1:c.3308C>A	NP_932173.1:p.Ser1103Tyr
XM_006713282.2:c.3308C>A	XP_006713345.1:p.Ser1103Tyr
XM_011533991.1:c.3305C>A	XP_011532293.1:p.Ser1102Tyr
XM_011533992.1:c.3179C>A	XP_011532294.1:p.Ser1060Tyr
NM_001354701.1:c.3305C>A	NP_001341630.1:p.Ser1102Tyr
XM_011533991.2:c.3305C>A	XP_011532293.1:p.Ser1102Tyr
XM_017007017.1:c.3228+1515C>A	XP_016862506.1:n.3228+1515C>A
NM_000335.5:c.3305C>A MANE Select	NP_000326.2:p.Ser1102Tyr
NM_001160160.2:c.3305C>A	NP_001153632.1:p.Ser1102Tyr
NM_001354701.2:c.3305C>A	NP_001341630.1:p.Ser1102Tyr
NM_001099404.2:c.3308C>A MANE Plus Clinical	NP_001092874.1:p.Ser1103Tyr
NM_001099405.2:c.3308C>A	NP_001092875.1:p.Ser1103Tyr
NM_001160161.2:c.3228+1515C>A	NP_001153633.1:n.3228+1515C>A
NM_198056.3:c.3308C>A	NP_932173.1:p.Ser1103Tyr