Canonical Allele Identifier: CA017049
Gene: SCN5A HGNC NCBI

Linked Data

ClinVar Variation Id: 67791
dbSNP Id: rs199473194
gnomAD v2: 3-38620877-G-A
gnomAD v3: 3-38579386-G-A
gnomAD v4: 3-38579386-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.38579386G>A , CM000665.2:g.38579386G>A GRCh38
NC_000003.11:g.38620877G>A , CM000665.1:g.38620877G>A GRCh37
NC_000003.10:g.38595881G>A NCBI36
NG_008934.1:g.75287C>T , LRG_289:g.75287C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000327956.7:c.3335C>T ENSP00000333674.7:p.Ala1112Val
ENST00000333535.9:c.3338C>T ENSP00000328968.4:p.Ala1113Val
ENST00000413689.6:c.3338C>T MANE Plus Clinical ENSP00000410257.1:p.Ala1113Val
ENST00000423572.7:c.3335C>T MANE Select ENSP00000398266.2:p.Ala1112Val
ENST00000333535.8:c.3338C>T ENSP00000328968.4:p.Ala1113Val
ENST00000413689.5:c.3338C>T ENSP00000410257.1:p.Ala1113Val
ENST00000414099.6:c.3338C>T ENSP00000398962.2:p.Ala1113Val
ENST00000423572.6:c.3335C>T ENSP00000398266.2:p.Ala1112Val
ENST00000425664.5:c.3338C>T ENSP00000416634.1:p.Ala1113Val
ENST00000449557.6:c.3228+1545C>T ENSP00000413996.2:n.3228+1545C>T
ENST00000450102.6:c.3228+1545C>T ENSP00000403355.2:n.3228+1545C>T
ENST00000451551.6:c.3228+1545C>T ENSP00000388797.2:n.3228+1545C>T
ENST00000455624.6:c.3335C>T ENSP00000399524.2:p.Ala1112Val
NM_000335.4:c.3335C>T , LRG_289t2:c.3335C>T NP_000326.2:p.Ala1112Val
NM_001099404.1:c.3338C>T , LRG_289t3:c.3338C>T NP_001092874.1:p.Ala1113Val
NM_001099405.1:c.3338C>T NP_001092875.1:p.Ala1113Val
NM_001160160.1:c.3335C>T NP_001153632.1:p.Ala1112Val
NM_001160161.1:c.3228+1545C>T NP_001153633.1:n.3228+1545C>T
NM_198056.2:c.3338C>T , LRG_289t1:c.3338C>T NP_932173.1:p.Ala1113Val
XM_006713282.2:c.3338C>T XP_006713345.1:p.Ala1113Val
XM_011533991.1:c.3335C>T XP_011532293.1:p.Ala1112Val
XM_011533992.1:c.3209C>T XP_011532294.1:p.Ala1070Val
NM_001354701.1:c.3335C>T NP_001341630.1:p.Ala1112Val
XM_011533991.2:c.3335C>T XP_011532293.1:p.Ala1112Val
XM_017007017.1:c.3228+1545C>T XP_016862506.1:n.3228+1545C>T
NM_000335.5:c.3335C>T MANE Select NP_000326.2:p.Ala1112Val
NM_001160160.2:c.3335C>T NP_001153632.1:p.Ala1112Val
NM_001354701.2:c.3335C>T NP_001341630.1:p.Ala1112Val
NM_001099404.2:c.3338C>T MANE Plus Clinical NP_001092874.1:p.Ala1113Val
NM_001099405.2:c.3338C>T NP_001092875.1:p.Ala1113Val
NM_001160161.2:c.3228+1545C>T NP_001153633.1:n.3228+1545C>T
NM_198056.3:c.3338C>T NP_932173.1:p.Ala1113Val