Canonical Allele Identifier: CA602138461

Gene: SCN4B

Linked Data

• dbSNP Id: rs1454216638
• gnomAD v2: 11-118014633-CGT-C
• gnomAD v4: 11-118143918-CGT-C
• MyVariant Identifiers: chr11:g.118014634_118014635del (hg19) ; chr11:g.118143919_118143920del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.118143921_118143922del , CM000673.2:g.118143921_118143922del	GRCh38
NC_000011.9:g.118014636_118014637del , CM000673.1:g.118014636_118014637del	GRCh37
NC_000011.8:g.117519846_117519847del	NCBI36
NG_011710.1:g.13996_13997del , LRG_330:g.13996_13997del

Transcript Alleles

HGVS	Amino-acid change
ENST00000324727.9:c.376_377del MANE Select	ENSP00000322460.4:p.Thr126GlyfsTer14
ENST00000324727.8:c.376_377del	ENSP00000322460.4:p.Thr126GlyfsTer14
ENST00000415030.6:n.519_520del
ENST00000529878.1:c.62-2584_62-2583del	ENSP00000436343.1:n.62-2584_62-2583del
ENST00000532138.1:n.719+67_719+68del
NM_001142348.1:c.62-2584_62-2583del	NP_001135820.1:n.62-2584_62-2583del
NM_001142349.1:c.46_47del	NP_001135821.1:p.Thr16GlyfsTer14
NM_174934.3:c.376_377del , LRG_330t1:c.376_377del	NP_777594.1:p.Thr126GlyfsTer14
NR_024527.1:n.488+67_488+68del
NM_001142348.2:c.62-2584_62-2583del	NP_001135820.1:n.62-2584_62-2583del
NM_001142349.2:c.46_47del	NP_001135821.1:p.Thr16GlyfsTer14
NR_024527.2:n.452+67_452+68del
NM_174934.4:c.376_377del MANE Select	NP_777594.1:p.Thr126GlyfsTer14