Canonical Allele Identifier: CA065143

Gene: SCN5A

Linked Data

• ClinVar Variation Id: 702922
• ClinVar RCV Id: RCV001842545 ; RCV002354673 ; RCV003655325
• dbSNP Id: rs759522701
• ExAC: 3:38591863 A / G
• gnomAD v2: 3-38591863-A-G
• gnomAD v3: 3-38550372-A-G
• gnomAD v4: 3-38550372-A-G
• MyVariant Identifiers: chr3:g.38591863A>G (hg19) ; chr3:g.38550372A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38550372A>G , CM000665.2:g.38550372A>G	GRCh38
NC_000003.11:g.38591863A>G , CM000665.1:g.38591863A>G	GRCh37
NC_000003.10:g.38566867A>G	NCBI36
NG_008934.1:g.104301T>C , LRG_289:g.104301T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327956.7:c.5997T>C	ENSP00000333674.7:p.Asp1999=
ENST00000333535.9:c.6000T>C	ENSP00000328968.4:p.Asp2000=
ENST00000413689.6:c.6000T>C MANE Plus Clinical	ENSP00000410257.1:p.Asp2000=
ENST00000423572.7:c.5997T>C MANE Select	ENSP00000398266.2:p.Asp1999=
ENST00000333535.8:c.6000T>C	ENSP00000328968.4:p.Asp2000=
ENST00000413689.5:c.6000T>C	ENSP00000410257.1:p.Asp2000=
ENST00000414099.6:c.5946T>C	ENSP00000398962.2:p.Asp1982=
ENST00000423572.6:c.5997T>C	ENSP00000398266.2:p.Asp1999=
ENST00000425664.5:c.5946T>C	ENSP00000416634.1:p.Asp1982=
ENST00000449557.6:c.5838T>C	ENSP00000413996.2:p.Asp1946=
ENST00000450102.6:c.5838T>C	ENSP00000403355.2:p.Asp1946=
ENST00000451551.6:c.5838T>C	ENSP00000388797.2:p.Asp1946=
ENST00000455624.6:c.5901T>C	ENSP00000399524.2:p.Asp1967=
NM_000335.4:c.5997T>C , LRG_289t2:c.5997T>C	NP_000326.2:p.Asp1999=
NM_001099404.1:c.6000T>C , LRG_289t3:c.6000T>C	NP_001092874.1:p.Asp2000=
NM_001099405.1:c.5946T>C	NP_001092875.1:p.Asp1982=
NM_001160160.1:c.5901T>C	NP_001153632.1:p.Asp1967=
NM_001160161.1:c.5838T>C	NP_001153633.1:p.Asp1946=
NM_198056.2:c.6000T>C , LRG_289t1:c.6000T>C	NP_932173.1:p.Asp2000=
XM_006713282.2:c.6000T>C	XP_006713345.1:p.Asp2000=
XM_011533991.1:c.5997T>C	XP_011532293.1:p.Asp1999=
XM_011533992.1:c.5871T>C	XP_011532294.1:p.Asp1957=
NM_001354701.1:c.5943T>C	NP_001341630.1:p.Asp1981=
XM_011533991.2:c.5997T>C	XP_011532293.1:p.Asp1999=
XM_017007017.1:c.5838T>C	XP_016862506.1:p.Asp1946=
NM_000335.5:c.5997T>C MANE Select	NP_000326.2:p.Asp1999=
NM_001160160.2:c.5901T>C	NP_001153632.1:p.Asp1967=
NM_001354701.2:c.5943T>C	NP_001341630.1:p.Asp1981=
NM_001099404.2:c.6000T>C MANE Plus Clinical	NP_001092874.1:p.Asp2000=
NM_001099405.2:c.5946T>C	NP_001092875.1:p.Asp1982=
NM_001160161.2:c.5838T>C	NP_001153633.1:p.Asp1946=
NM_198056.3:c.6000T>C	NP_932173.1:p.Asp2000=