Canonical Allele Identifier: CA2616225895

Gene: SCN4B

Linked Data

• gnomAD v4: 11-118137122-TGGAGAGGGAGAGAGAAGGGACAGTGGTGA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.118137130_118137158del , CM000673.2:g.118137130_118137158del	GRCh38
NC_000011.9:g.118007845_118007873del , CM000673.1:g.118007845_118007873del	GRCh37
NC_000011.8:g.117513055_117513083del	NCBI36
NG_011710.1:g.20765_20793del , LRG_330:g.20765_20793del

Transcript Alleles

HGVS	Amino-acid change
ENST00000324727.9:c.594-31_594-3del MANE Select	ENSP00000322460.4:n.594-31_594-3del
ENST00000324727.8:c.594-31_594-3del	ENSP00000322460.4:n.594-31_594-3del
ENST00000415030.6:n.737-31_737-3del
ENST00000423160.2:n.228-31_228-3del
ENST00000529878.1:c.192-31_192-3del	ENSP00000436343.1:n.192-31_192-3del
ENST00000531550.1:n.659-31_659-3del
NM_001142348.1:c.192-31_192-3del	NP_001135820.1:n.192-31_192-3del
NM_001142349.1:c.264-31_264-3del	NP_001135821.1:n.264-31_264-3del
NM_174934.3:c.594-31_594-3del , LRG_330t1:c.594-31_594-3del	NP_777594.1:n.594-31_594-3del
NR_024527.1:n.619-31_619-3del
NM_001142348.2:c.192-31_192-3del	NP_001135820.1:n.192-31_192-3del
NM_001142349.2:c.264-31_264-3del	NP_001135821.1:n.264-31_264-3del
NR_024527.2:n.583-31_583-3del
NM_174934.4:c.594-31_594-3del MANE Select	NP_777594.1:n.594-31_594-3del