Canonical Allele Identifier: CA672317400

Gene: SCN4B

Linked Data

• dbSNP Id: rs1483862181
• gnomAD v3: 11-118141423-ATG-A
• gnomAD v4: 11-118141423-ATG-A
• MyVariant Identifiers: chr11:g.118012139_118012140del (hg19) ; chr11:g.118141424_118141425del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.118141425_118141426del , CM000673.2:g.118141425_118141426del	GRCh38
NC_000011.9:g.118012140_118012141del , CM000673.1:g.118012140_118012141del	GRCh37
NC_000011.8:g.117517350_117517351del	NCBI36
NG_011710.1:g.16491_16492del , LRG_330:g.16491_16492del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324727.9:c.464-89_464-88del MANE Select	ENSP00000322460.4:n.464-89_464-88del
ENST00000324727.8:c.464-89_464-88del	ENSP00000322460.4:n.464-89_464-88del
ENST00000415030.6:n.607-89_607-88del
ENST00000423160.2:n.98-89_98-88del
ENST00000529878.1:c.62-89_62-88del	ENSP00000436343.1:n.62-89_62-88del
ENST00000531550.1:n.440_441del
ENST00000532138.1:n.720-89_720-88del
NM_001142348.1:c.62-89_62-88del	NP_001135820.1:n.62-89_62-88del
NM_001142349.1:c.134-89_134-88del	NP_001135821.1:n.134-89_134-88del
NM_174934.3:c.464-89_464-88del , LRG_330t1:c.464-89_464-88del	NP_777594.1:n.464-89_464-88del
NR_024527.1:n.489-89_489-88del
NM_001142348.2:c.62-89_62-88del	NP_001135820.1:n.62-89_62-88del
NM_001142349.2:c.134-89_134-88del	NP_001135821.1:n.134-89_134-88del
NR_024527.2:n.453-89_453-88del
NM_174934.4:c.464-89_464-88del MANE Select	NP_777594.1:n.464-89_464-88del