Canonical Allele Identifier: CA064494

Gene: SCN5A

Linked Data

• ClinVar Variation Id: 519298
• ClinVar RCV Id: RCV001507622
• dbSNP Id: rs368967393
• ExAC: 3:38592339 T / C
• gnomAD v2: 3-38592339-T-C
• gnomAD v4: 3-38550848-T-C
• MyVariant Identifiers: chr3:g.38592339T>C (hg19) ; chr3:g.38550848T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38550848T>C , CM000665.2:g.38550848T>C	GRCh38
NC_000003.11:g.38592339T>C , CM000665.1:g.38592339T>C	GRCh37
NC_000003.10:g.38567343T>C	NCBI36
NG_008934.1:g.103825A>G , LRG_289:g.103825A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000327956.7:c.5521A>G	ENSP00000333674.7:p.Met1841Val
ENST00000333535.9:c.5524A>G	ENSP00000328968.4:p.Met1842Val
ENST00000413689.6:c.5524A>G MANE Plus Clinical	ENSP00000410257.1:p.Met1842Val
ENST00000423572.7:c.5521A>G MANE Select	ENSP00000398266.2:p.Met1841Val
ENST00000333535.8:c.5524A>G	ENSP00000328968.4:p.Met1842Val
ENST00000413689.5:c.5524A>G	ENSP00000410257.1:p.Met1842Val
ENST00000414099.6:c.5470A>G	ENSP00000398962.2:p.Met1824Val
ENST00000423572.6:c.5521A>G	ENSP00000398266.2:p.Met1841Val
ENST00000425664.5:c.5470A>G	ENSP00000416634.1:p.Met1824Val
ENST00000449557.6:c.5362A>G	ENSP00000413996.2:p.Met1788Val
ENST00000450102.6:c.5362A>G	ENSP00000403355.2:p.Met1788Val
ENST00000451551.6:c.5362A>G	ENSP00000388797.2:p.Met1788Val
ENST00000455624.6:c.5425A>G	ENSP00000399524.2:p.Met1809Val
NM_000335.4:c.5521A>G , LRG_289t2:c.5521A>G	NP_000326.2:p.Met1841Val
NM_001099404.1:c.5524A>G , LRG_289t3:c.5524A>G	NP_001092874.1:p.Met1842Val
NM_001099405.1:c.5470A>G	NP_001092875.1:p.Met1824Val
NM_001160160.1:c.5425A>G	NP_001153632.1:p.Met1809Val
NM_001160161.1:c.5362A>G	NP_001153633.1:p.Met1788Val
NM_198056.2:c.5524A>G , LRG_289t1:c.5524A>G	NP_932173.1:p.Met1842Val
XM_006713282.2:c.5524A>G	XP_006713345.1:p.Met1842Val
XM_011533991.1:c.5521A>G	XP_011532293.1:p.Met1841Val
XM_011533992.1:c.5395A>G	XP_011532294.1:p.Met1799Val
NM_001354701.1:c.5467A>G	NP_001341630.1:p.Met1823Val
XM_011533991.2:c.5521A>G	XP_011532293.1:p.Met1841Val
XM_017007017.1:c.5362A>G	XP_016862506.1:p.Met1788Val
NM_000335.5:c.5521A>G MANE Select	NP_000326.2:p.Met1841Val
NM_001160160.2:c.5425A>G	NP_001153632.1:p.Met1809Val
NM_001354701.2:c.5467A>G	NP_001341630.1:p.Met1823Val
NM_001099404.2:c.5524A>G MANE Plus Clinical	NP_001092874.1:p.Met1842Val
NM_001099405.2:c.5470A>G	NP_001092875.1:p.Met1824Val
NM_001160161.2:c.5362A>G	NP_001153633.1:p.Met1788Val
NM_198056.3:c.5524A>G	NP_932173.1:p.Met1842Val