Canonical Allele Identifier: CA017238
Gene: SCN5A HGNC NCBI

Linked Data

ClinVar Variation Id: 201496
dbSNP Id: rs794728874
gnomAD v2: 3-38616913-C-A
gnomAD v3: 3-38575422-C-A
gnomAD v4: 3-38575422-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.38575422C>A , CM000665.2:g.38575422C>A GRCh38
NC_000003.11:g.38616913C>A , CM000665.1:g.38616913C>A GRCh37
NC_000003.10:g.38591917C>A NCBI36
NG_008934.1:g.79251G>T , LRG_289:g.79251G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000327956.7:c.3538G>T ENSP00000333674.7:p.Val1180Leu
ENST00000333535.9:c.3541G>T ENSP00000328968.4:p.Val1181Leu
ENST00000413689.6:c.3541G>T MANE Plus Clinical ENSP00000410257.1:p.Val1181Leu
ENST00000423572.7:c.3538G>T MANE Select ENSP00000398266.2:p.Val1180Leu
ENST00000333535.8:c.3541G>T ENSP00000328968.4:p.Val1181Leu
ENST00000413689.5:c.3541G>T ENSP00000410257.1:p.Val1181Leu
ENST00000414099.6:c.3541G>T ENSP00000398962.2:p.Val1181Leu
ENST00000423572.6:c.3538G>T ENSP00000398266.2:p.Val1180Leu
ENST00000425664.5:c.3541G>T ENSP00000416634.1:p.Val1181Leu
ENST00000449557.6:c.3379G>T ENSP00000413996.2:p.Val1127Leu
ENST00000450102.6:c.3379G>T ENSP00000403355.2:p.Val1127Leu
ENST00000451551.6:c.3379G>T ENSP00000388797.2:p.Val1127Leu
ENST00000455624.6:c.3538G>T ENSP00000399524.2:p.Val1180Leu
NM_000335.4:c.3538G>T , LRG_289t2:c.3538G>T NP_000326.2:p.Val1180Leu
NM_001099404.1:c.3541G>T , LRG_289t3:c.3541G>T NP_001092874.1:p.Val1181Leu
NM_001099405.1:c.3541G>T NP_001092875.1:p.Val1181Leu
NM_001160160.1:c.3538G>T NP_001153632.1:p.Val1180Leu
NM_001160161.1:c.3379G>T NP_001153633.1:p.Val1127Leu
NM_198056.2:c.3541G>T , LRG_289t1:c.3541G>T NP_932173.1:p.Val1181Leu
XM_006713282.2:c.3541G>T XP_006713345.1:p.Val1181Leu
XM_011533991.1:c.3538G>T XP_011532293.1:p.Val1180Leu
XM_011533992.1:c.3412G>T XP_011532294.1:p.Val1138Leu
NM_001354701.1:c.3538G>T NP_001341630.1:p.Val1180Leu
XM_011533991.2:c.3538G>T XP_011532293.1:p.Val1180Leu
XM_017007017.1:c.3379G>T XP_016862506.1:p.Val1127Leu
NM_000335.5:c.3538G>T MANE Select NP_000326.2:p.Val1180Leu
NM_001160160.2:c.3538G>T NP_001153632.1:p.Val1180Leu
NM_001354701.2:c.3538G>T NP_001341630.1:p.Val1180Leu
NM_001099404.2:c.3541G>T MANE Plus Clinical NP_001092874.1:p.Val1181Leu
NM_001099405.2:c.3541G>T NP_001092875.1:p.Val1181Leu
NM_001160161.2:c.3379G>T NP_001153633.1:p.Val1127Leu
NM_198056.3:c.3541G>T NP_932173.1:p.Val1181Leu