Canonical Allele Identifier: CA6300187

Gene: SCN4B

Linked Data

• dbSNP Id: rs762096574
• ExAC: 11:118012033 GTGT / G
• gnomAD v2: 11-118012033-GTGT-G
• gnomAD v4: 11-118141318-GTGT-G
• MyVariant Identifiers: chr11:g.118012034_118012036del (hg19) ; chr11:g.118141319_118141321del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.118141322_118141324del , CM000673.2:g.118141322_118141324del	GRCh38
NC_000011.9:g.118012037_118012039del , CM000673.1:g.118012037_118012039del	GRCh37
NC_000011.8:g.117517247_117517249del	NCBI36
NG_011710.1:g.16595_16597del , LRG_330:g.16595_16597del

Transcript Alleles

HGVS	Amino-acid change
ENST00000324727.9:c.479_481del MANE Select	ENSP00000322460.4:p.Asn160del
ENST00000324727.8:c.479_481del	ENSP00000322460.4:p.Asn160del
ENST00000415030.6:n.622_624del
ENST00000423160.2:n.113_115del
ENST00000529878.1:c.77_79del	ENSP00000436343.1:p.Asn26del
ENST00000531550.1:n.544_546del
ENST00000532138.1:n.735_737del
NM_001142348.1:c.77_79del	NP_001135820.1:p.Asn26del
NM_001142349.1:c.149_151del	NP_001135821.1:p.Asn50del
NM_174934.3:c.479_481del , LRG_330t1:c.479_481del	NP_777594.1:p.Asn160del
NR_024527.1:n.504_506del
NM_001142348.2:c.77_79del	NP_001135820.1:p.Asn26del
NM_001142349.2:c.149_151del	NP_001135821.1:p.Asn50del
NR_024527.2:n.468_470del
NM_174934.4:c.479_481del MANE Select	NP_777594.1:p.Asn160del