Canonical Allele Identifier: CA602138461
Gene: SCN4B HGNC NCBI

Linked Data

dbSNP Id: rs1454216638

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