Canonical Allele Identifier: CA542274612

Gene: SCN5A

Linked Data

• dbSNP Id: rs1175701290
• gnomAD v2: 3-38675180-CACTT-C
• gnomAD v3: 3-38633689-CACTT-C
• gnomAD v4: 3-38633689-CACTT-C
• MyVariant Identifiers: chr3:g.38675181_38675184del (hg19) ; chr3:g.38633690_38633693del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38633692_38633695del , CM000665.2:g.38633692_38633695del	GRCh38
NC_000003.11:g.38675183_38675186del , CM000665.1:g.38675183_38675186del	GRCh37
NC_000003.10:g.38650187_38650190del	NCBI36
NG_008934.1:g.20980_20983del , LRG_289:g.20980_20983del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327956.7:c.-52-334_-52-331del	ENSP00000333674.7:n.-52-334_-52-331del
ENST00000333535.9:c.-52-334_-52-331del	ENSP00000328968.4:n.-52-334_-52-331del
ENST00000413689.6:c.-52-334_-52-331del MANE Plus Clinical	ENSP00000410257.1:n.-52-334_-52-331del
ENST00000423572.7:c.-52-334_-52-331del MANE Select	ENSP00000398266.2:n.-52-334_-52-331del
ENST00000327956.6:c.-52-334_-52-331del	ENSP00000333674.6:n.-52-334_-52-331del
ENST00000333535.8:c.-52-334_-52-331del	ENSP00000328968.4:n.-52-334_-52-331del
ENST00000413689.5:c.-52-334_-52-331del	ENSP00000410257.1:n.-52-334_-52-331del
ENST00000425664.5:c.-52-334_-52-331del	ENSP00000416634.1:n.-52-334_-52-331del
ENST00000451551.6:c.-52-334_-52-331del	ENSP00000388797.2:n.-52-334_-52-331del
ENST00000491944.1:n.144-334_144-331del
NM_000335.4:c.-52-334_-52-331del , LRG_289t2:c.-52-334_-52-331del	NP_000326.2:n.-52-334_-52-331del
NM_001099404.1:c.-52-334_-52-331del , LRG_289t3:c.-52-334_-52-331del	NP_001092874.1:n.-52-334_-52-331del
NM_001099405.1:c.-52-334_-52-331del	NP_001092875.1:n.-52-334_-52-331del
NM_001160160.1:c.-52-334_-52-331del	NP_001153632.1:n.-52-334_-52-331del
NM_001160161.1:c.-52-334_-52-331del	NP_001153633.1:n.-52-334_-52-331del
NM_198056.2:c.-52-334_-52-331del , LRG_289t1:c.-52-334_-52-331del	NP_932173.1:n.-52-334_-52-331del
XM_006713282.2:c.-52-334_-52-331del	XP_006713345.1:n.-52-334_-52-331del
XM_011533991.1:c.-52-334_-52-331del	XP_011532293.1:n.-52-334_-52-331del
XM_011533992.1:c.-52-334_-52-331del	XP_011532294.1:n.-52-334_-52-331del
NM_001354701.1:c.-52-334_-52-331del	NP_001341630.1:n.-52-334_-52-331del
XM_011533991.2:c.-52-334_-52-331del	XP_011532293.1:n.-52-334_-52-331del
XM_017007017.1:c.-52-334_-52-331del	XP_016862506.1:n.-52-334_-52-331del
NM_000335.5:c.-52-334_-52-331del MANE Select	NP_000326.2:n.-52-334_-52-331del
NM_001160160.2:c.-52-334_-52-331del	NP_001153632.1:n.-52-334_-52-331del
NM_001354701.2:c.-52-334_-52-331del	NP_001341630.1:n.-52-334_-52-331del
NM_001099404.2:c.-52-334_-52-331del MANE Plus Clinical	NP_001092874.1:n.-52-334_-52-331del
NM_001099405.2:c.-52-334_-52-331del	NP_001092875.1:n.-52-334_-52-331del
NM_001160161.2:c.-52-334_-52-331del	NP_001153633.1:n.-52-334_-52-331del
NM_198056.3:c.-52-334_-52-331del	NP_932173.1:n.-52-334_-52-331del