Canonical Allele Identifier: CA10576613

Gene: SCN5A

Linked Data

• ClinVar Variation Id: 229236
• ClinVar RCV Id: RCV000219261 ; RCV000766281 ; RCV002354612 ; RCV002500715 ; RCV001842985
• dbSNP Id: rs771018427
• gnomAD v2: 3-38591859-C-T
• gnomAD v3: 3-38550368-C-T
• gnomAD v4: 3-38550368-C-T
• MyVariant Identifiers: chr3:g.38591859C>T (hg19) ; chr3:g.38550368C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38550368C>T , CM000665.2:g.38550368C>T	GRCh38
NC_000003.11:g.38591859C>T , CM000665.1:g.38591859C>T	GRCh37
NC_000003.10:g.38566863C>T	NCBI36
NG_008934.1:g.104305G>A , LRG_289:g.104305G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327956.7:c.6001G>A	ENSP00000333674.7:p.Ala2001Thr
ENST00000333535.9:c.6004G>A	ENSP00000328968.4:p.Ala2002Thr
ENST00000413689.6:c.6004G>A MANE Plus Clinical	ENSP00000410257.1:p.Ala2002Thr
ENST00000423572.7:c.6001G>A MANE Select	ENSP00000398266.2:p.Ala2001Thr
ENST00000333535.8:c.6004G>A	ENSP00000328968.4:p.Ala2002Thr
ENST00000413689.5:c.6004G>A	ENSP00000410257.1:p.Ala2002Thr
ENST00000414099.6:c.5950G>A	ENSP00000398962.2:p.Ala1984Thr
ENST00000423572.6:c.6001G>A	ENSP00000398266.2:p.Ala2001Thr
ENST00000425664.5:c.5950G>A	ENSP00000416634.1:p.Ala1984Thr
ENST00000449557.6:c.5842G>A	ENSP00000413996.2:p.Ala1948Thr
ENST00000450102.6:c.5842G>A	ENSP00000403355.2:p.Ala1948Thr
ENST00000451551.6:c.5842G>A	ENSP00000388797.2:p.Ala1948Thr
ENST00000455624.6:c.5905G>A	ENSP00000399524.2:p.Ala1969Thr
NM_000335.4:c.6001G>A , LRG_289t2:c.6001G>A	NP_000326.2:p.Ala2001Thr
NM_001099404.1:c.6004G>A , LRG_289t3:c.6004G>A	NP_001092874.1:p.Ala2002Thr
NM_001099405.1:c.5950G>A	NP_001092875.1:p.Ala1984Thr
NM_001160160.1:c.5905G>A	NP_001153632.1:p.Ala1969Thr
NM_001160161.1:c.5842G>A	NP_001153633.1:p.Ala1948Thr
NM_198056.2:c.6004G>A , LRG_289t1:c.6004G>A	NP_932173.1:p.Ala2002Thr
XM_006713282.2:c.6004G>A	XP_006713345.1:p.Ala2002Thr
XM_011533991.1:c.6001G>A	XP_011532293.1:p.Ala2001Thr
XM_011533992.1:c.5875G>A	XP_011532294.1:p.Ala1959Thr
NM_001354701.1:c.5947G>A	NP_001341630.1:p.Ala1983Thr
XM_011533991.2:c.6001G>A	XP_011532293.1:p.Ala2001Thr
XM_017007017.1:c.5842G>A	XP_016862506.1:p.Ala1948Thr
NM_000335.5:c.6001G>A MANE Select	NP_000326.2:p.Ala2001Thr
NM_001160160.2:c.5905G>A	NP_001153632.1:p.Ala1969Thr
NM_001354701.2:c.5947G>A	NP_001341630.1:p.Ala1983Thr
NM_001099404.2:c.6004G>A MANE Plus Clinical	NP_001092874.1:p.Ala2002Thr
NM_001099405.2:c.5950G>A	NP_001092875.1:p.Ala1984Thr
NM_001160161.2:c.5842G>A	NP_001153633.1:p.Ala1948Thr
NM_198056.3:c.6004G>A	NP_932173.1:p.Ala2002Thr