Canonical Allele Identifier: CA352140759

Gene: SCN5A

Linked Data

• ClinVar Variation Id: 1171336
• ClinVar RCV Id: RCV001842078
• dbSNP Id: rs199473636
• gnomAD v4: 3-38550791-C-G
• MyVariant Identifiers: chr3:g.38592282C>G (hg19) ; chr3:g.38550791C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38550791C>G , CM000665.2:g.38550791C>G	GRCh38
NC_000003.11:g.38592282C>G , CM000665.1:g.38592282C>G	GRCh37
NC_000003.10:g.38567286C>G	NCBI36
NG_008934.1:g.103882G>C , LRG_289:g.103882G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000327956.7:c.5578G>C	ENSP00000333674.7:p.Val1860Leu
ENST00000333535.9:c.5581G>C	ENSP00000328968.4:p.Val1861Leu
ENST00000413689.6:c.5581G>C MANE Plus Clinical	ENSP00000410257.1:p.Val1861Leu
ENST00000423572.7:c.5578G>C MANE Select	ENSP00000398266.2:p.Val1860Leu
ENST00000333535.8:c.5581G>C	ENSP00000328968.4:p.Val1861Leu
ENST00000413689.5:c.5581G>C	ENSP00000410257.1:p.Val1861Leu
ENST00000414099.6:c.5527G>C	ENSP00000398962.2:p.Val1843Leu
ENST00000423572.6:c.5578G>C	ENSP00000398266.2:p.Val1860Leu
ENST00000425664.5:c.5527G>C	ENSP00000416634.1:p.Val1843Leu
ENST00000449557.6:c.5419G>C	ENSP00000413996.2:p.Val1807Leu
ENST00000450102.6:c.5419G>C	ENSP00000403355.2:p.Val1807Leu
ENST00000451551.6:c.5419G>C	ENSP00000388797.2:p.Val1807Leu
ENST00000455624.6:c.5482G>C	ENSP00000399524.2:p.Val1828Leu
NM_000335.4:c.5578G>C , LRG_289t2:c.5578G>C	NP_000326.2:p.Val1860Leu
NM_001099404.1:c.5581G>C , LRG_289t3:c.5581G>C	NP_001092874.1:p.Val1861Leu
NM_001099405.1:c.5527G>C	NP_001092875.1:p.Val1843Leu
NM_001160160.1:c.5482G>C	NP_001153632.1:p.Val1828Leu
NM_001160161.1:c.5419G>C	NP_001153633.1:p.Val1807Leu
NM_198056.2:c.5581G>C , LRG_289t1:c.5581G>C	NP_932173.1:p.Val1861Leu
XM_006713282.2:c.5581G>C	XP_006713345.1:p.Val1861Leu
XM_011533991.1:c.5578G>C	XP_011532293.1:p.Val1860Leu
XM_011533992.1:c.5452G>C	XP_011532294.1:p.Val1818Leu
NM_001354701.1:c.5524G>C	NP_001341630.1:p.Val1842Leu
XM_011533991.2:c.5578G>C	XP_011532293.1:p.Val1860Leu
XM_017007017.1:c.5419G>C	XP_016862506.1:p.Val1807Leu
NM_000335.5:c.5578G>C MANE Select	NP_000326.2:p.Val1860Leu
NM_001160160.2:c.5482G>C	NP_001153632.1:p.Val1828Leu
NM_001354701.2:c.5524G>C	NP_001341630.1:p.Val1842Leu
NM_001099404.2:c.5581G>C MANE Plus Clinical	NP_001092874.1:p.Val1861Leu
NM_001099405.2:c.5527G>C	NP_001092875.1:p.Val1843Leu
NM_001160161.2:c.5419G>C	NP_001153633.1:p.Val1807Leu
NM_198056.3:c.5581G>C	NP_932173.1:p.Val1861Leu