Canonical Allele Identifier: CA063871

Gene: SCN5A

Linked Data

• ClinVar Variation Id: 2587160
• ClinVar RCV Id: RCV003339199 ; RCV004011273 ; RCV003679191
• dbSNP Id: rs368031564
• ExAC: 3:38593006 C / G
• gnomAD v2: 3-38593006-C-G
• gnomAD v4: 3-38551515-C-G
• MyVariant Identifiers: chr3:g.38593006C>G (hg19) ; chr3:g.38551515C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38551515C>G , CM000665.2:g.38551515C>G	GRCh38
NC_000003.11:g.38593006C>G , CM000665.1:g.38593006C>G	GRCh37
NC_000003.10:g.38568010C>G	NCBI36
NG_008934.1:g.103158G>C , LRG_289:g.103158G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327956.7:c.4854G>C	ENSP00000333674.7:p.Pro1618=
ENST00000333535.9:c.4857G>C	ENSP00000328968.4:p.Pro1619=
ENST00000413689.6:c.4857G>C MANE Plus Clinical	ENSP00000410257.1:p.Pro1619=
ENST00000423572.7:c.4854G>C MANE Select	ENSP00000398266.2:p.Pro1618=
ENST00000333535.8:c.4857G>C	ENSP00000328968.4:p.Pro1619=
ENST00000413689.5:c.4857G>C	ENSP00000410257.1:p.Pro1619=
ENST00000414099.6:c.4803G>C	ENSP00000398962.2:p.Pro1601=
ENST00000423572.6:c.4854G>C	ENSP00000398266.2:p.Pro1618=
ENST00000425664.5:c.4803G>C	ENSP00000416634.1:p.Pro1601=
ENST00000449557.6:c.4695G>C	ENSP00000413996.2:p.Pro1565=
ENST00000450102.6:c.4695G>C	ENSP00000403355.2:p.Pro1565=
ENST00000451551.6:c.4695G>C	ENSP00000388797.2:p.Pro1565=
ENST00000455624.6:c.4758G>C	ENSP00000399524.2:p.Pro1586=
NM_000335.4:c.4854G>C , LRG_289t2:c.4854G>C	NP_000326.2:p.Pro1618=
NM_001099404.1:c.4857G>C , LRG_289t3:c.4857G>C	NP_001092874.1:p.Pro1619=
NM_001099405.1:c.4803G>C	NP_001092875.1:p.Pro1601=
NM_001160160.1:c.4758G>C	NP_001153632.1:p.Pro1586=
NM_001160161.1:c.4695G>C	NP_001153633.1:p.Pro1565=
NM_198056.2:c.4857G>C , LRG_289t1:c.4857G>C	NP_932173.1:p.Pro1619=
XM_006713282.2:c.4857G>C	XP_006713345.1:p.Pro1619=
XM_011533991.1:c.4854G>C	XP_011532293.1:p.Pro1618=
XM_011533992.1:c.4728G>C	XP_011532294.1:p.Pro1576=
NM_001354701.1:c.4800G>C	NP_001341630.1:p.Pro1600=
XM_011533991.2:c.4854G>C	XP_011532293.1:p.Pro1618=
XM_017007017.1:c.4695G>C	XP_016862506.1:p.Pro1565=
NM_000335.5:c.4854G>C MANE Select	NP_000326.2:p.Pro1618=
NM_001160160.2:c.4758G>C	NP_001153632.1:p.Pro1586=
NM_001354701.2:c.4800G>C	NP_001341630.1:p.Pro1600=
NM_001099404.2:c.4857G>C MANE Plus Clinical	NP_001092874.1:p.Pro1619=
NM_001099405.2:c.4803G>C	NP_001092875.1:p.Pro1601=
NM_001160161.2:c.4695G>C	NP_001153633.1:p.Pro1565=
NM_198056.3:c.4857G>C	NP_932173.1:p.Pro1619=