Canonical Allele Identifier: CA352143150

Gene: SCN5A

Linked Data

• ClinVar Variation Id: 1743377
• ClinVar RCV Id: RCV002330764
• MyVariant Identifiers: chr3:g.38593040A>C (hg19) ; chr3:g.38551549A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38551549A>C , CM000665.2:g.38551549A>C	GRCh38
NC_000003.11:g.38593040A>C , CM000665.1:g.38593040A>C	GRCh37
NC_000003.10:g.38568044A>C	NCBI36
NG_008934.1:g.103124T>G , LRG_289:g.103124T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327956.7:c.4820T>G	ENSP00000333674.7:p.Leu1607Arg
ENST00000333535.9:c.4823T>G	ENSP00000328968.4:p.Leu1608Arg
ENST00000413689.6:c.4823T>G MANE Plus Clinical	ENSP00000410257.1:p.Leu1608Arg
ENST00000423572.7:c.4820T>G MANE Select	ENSP00000398266.2:p.Leu1607Arg
ENST00000333535.8:c.4823T>G	ENSP00000328968.4:p.Leu1608Arg
ENST00000413689.5:c.4823T>G	ENSP00000410257.1:p.Leu1608Arg
ENST00000414099.6:c.4769T>G	ENSP00000398962.2:p.Leu1590Arg
ENST00000423572.6:c.4820T>G	ENSP00000398266.2:p.Leu1607Arg
ENST00000425664.5:c.4769T>G	ENSP00000416634.1:p.Leu1590Arg
ENST00000449557.6:c.4661T>G	ENSP00000413996.2:p.Leu1554Arg
ENST00000450102.6:c.4661T>G	ENSP00000403355.2:p.Leu1554Arg
ENST00000451551.6:c.4661T>G	ENSP00000388797.2:p.Leu1554Arg
ENST00000455624.6:c.4724T>G	ENSP00000399524.2:p.Leu1575Arg
NM_000335.4:c.4820T>G , LRG_289t2:c.4820T>G	NP_000326.2:p.Leu1607Arg
NM_001099404.1:c.4823T>G , LRG_289t3:c.4823T>G	NP_001092874.1:p.Leu1608Arg
NM_001099405.1:c.4769T>G	NP_001092875.1:p.Leu1590Arg
NM_001160160.1:c.4724T>G	NP_001153632.1:p.Leu1575Arg
NM_001160161.1:c.4661T>G	NP_001153633.1:p.Leu1554Arg
NM_198056.2:c.4823T>G , LRG_289t1:c.4823T>G	NP_932173.1:p.Leu1608Arg
XM_006713282.2:c.4823T>G	XP_006713345.1:p.Leu1608Arg
XM_011533991.1:c.4820T>G	XP_011532293.1:p.Leu1607Arg
XM_011533992.1:c.4694T>G	XP_011532294.1:p.Leu1565Arg
NM_001354701.1:c.4766T>G	NP_001341630.1:p.Leu1589Arg
XM_011533991.2:c.4820T>G	XP_011532293.1:p.Leu1607Arg
XM_017007017.1:c.4661T>G	XP_016862506.1:p.Leu1554Arg
NM_000335.5:c.4820T>G MANE Select	NP_000326.2:p.Leu1607Arg
NM_001160160.2:c.4724T>G	NP_001153632.1:p.Leu1575Arg
NM_001354701.2:c.4766T>G	NP_001341630.1:p.Leu1589Arg
NM_001099404.2:c.4823T>G MANE Plus Clinical	NP_001092874.1:p.Leu1608Arg
NM_001099405.2:c.4769T>G	NP_001092875.1:p.Leu1590Arg
NM_001160161.2:c.4661T>G	NP_001153633.1:p.Leu1554Arg
NM_198056.3:c.4823T>G	NP_932173.1:p.Leu1608Arg