Canonical Allele Identifier: CA019578

Gene: SCN5A

Linked Data

• ClinVar Variation Id: 48315
• ClinVar RCV Id: RCV000041636 ; RCV000058821 ; RCV000171818 ; RCV000202785 ; RCV000251940 ; RCV000852960 ; RCV000678922 ; RCV001145574 ; RCV001145575 ; RCV001145687 ; RCV001145688 ; RCV001145689 ; RCV001841618
• dbSNP Id: rs41311117
• ExAC: 3:38591853 A / G
• gnomAD v2: 3-38591853-A-G
• gnomAD v3: 3-38550362-A-G
• gnomAD v4: 3-38550362-A-G
• MyVariant Identifiers: chr3:g.38591853A>G (hg19) ; chr3:g.38550362A>G (hg38)
• PubMed: PMID:15851227 ; PMID:16643399 ; PMID:17210839 ; PMID:17210841 ; PMID:17605181 ; PMID:18071069 ; PMID:18378609 ; PMID:18456723 ; PMID:18502906 ; PMID:19026623 ; PMID:19841300 ; PMID:20129283 ; PMID:21063070 ; PMID:22581653 ; PMID:22685113 ; PMID:23414114 ; PMID:23571586 ; PMID:23714088 ; PMID:23861362 ; PMID:23891399 ; PMID:23936059 ; PMID:25410959 ; PMID:26159999 ; PMID:27711072 ; PMID:28150151 ; PMID:28166282 ; PMID:28316956 ; PMID:28807990

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38550362A>G , CM000665.2:g.38550362A>G	GRCh38
NC_000003.11:g.38591853A>G , CM000665.1:g.38591853A>G	GRCh37
NC_000003.10:g.38566857A>G	NCBI36
NG_008934.1:g.104311T>C , LRG_289:g.104311T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327956.7:c.6007T>C	ENSP00000333674.7:p.Phe2003Leu
ENST00000333535.9:c.6010T>C	ENSP00000328968.4:p.Phe2004Leu
ENST00000413689.6:c.6010T>C MANE Plus Clinical	ENSP00000410257.1:p.Phe2004Leu
ENST00000423572.7:c.6007T>C MANE Select	ENSP00000398266.2:p.Phe2003Leu
ENST00000333535.8:c.6010T>C	ENSP00000328968.4:p.Phe2004Leu
ENST00000413689.5:c.6010T>C	ENSP00000410257.1:p.Phe2004Leu
ENST00000414099.6:c.5956T>C	ENSP00000398962.2:p.Phe1986Leu
ENST00000423572.6:c.6007T>C	ENSP00000398266.2:p.Phe2003Leu
ENST00000425664.5:c.5956T>C	ENSP00000416634.1:p.Phe1986Leu
ENST00000449557.6:c.5848T>C	ENSP00000413996.2:p.Phe1950Leu
ENST00000450102.6:c.5848T>C	ENSP00000403355.2:p.Phe1950Leu
ENST00000451551.6:c.5848T>C	ENSP00000388797.2:p.Phe1950Leu
ENST00000455624.6:c.5911T>C	ENSP00000399524.2:p.Phe1971Leu
NM_000335.4:c.6007T>C , LRG_289t2:c.6007T>C	NP_000326.2:p.Phe2003Leu
NM_001099404.1:c.6010T>C , LRG_289t3:c.6010T>C	NP_001092874.1:p.Phe2004Leu
NM_001099405.1:c.5956T>C	NP_001092875.1:p.Phe1986Leu
NM_001160160.1:c.5911T>C	NP_001153632.1:p.Phe1971Leu
NM_001160161.1:c.5848T>C	NP_001153633.1:p.Phe1950Leu
NM_198056.2:c.6010T>C , LRG_289t1:c.6010T>C	NP_932173.1:p.Phe2004Leu
XM_006713282.2:c.6010T>C	XP_006713345.1:p.Phe2004Leu
XM_011533991.1:c.6007T>C	XP_011532293.1:p.Phe2003Leu
XM_011533992.1:c.5881T>C	XP_011532294.1:p.Phe1961Leu
NM_001354701.1:c.5953T>C	NP_001341630.1:p.Phe1985Leu
XM_011533991.2:c.6007T>C	XP_011532293.1:p.Phe2003Leu
XM_017007017.1:c.5848T>C	XP_016862506.1:p.Phe1950Leu
NM_000335.5:c.6007T>C MANE Select	NP_000326.2:p.Phe2003Leu
NM_001160160.2:c.5911T>C	NP_001153632.1:p.Phe1971Leu
NM_001354701.2:c.5953T>C	NP_001341630.1:p.Phe1985Leu
NM_001099404.2:c.6010T>C MANE Plus Clinical	NP_001092874.1:p.Phe2004Leu
NM_001099405.2:c.5956T>C	NP_001092875.1:p.Phe1986Leu
NM_001160161.2:c.5848T>C	NP_001153633.1:p.Phe1950Leu
NM_198056.3:c.6010T>C	NP_932173.1:p.Phe2004Leu