Canonical Allele Identifier: CA6300144

Gene: SCN4B

Linked Data

• ClinVar Variation Id: 1596946
• ClinVar RCV Id: RCV002105667
• dbSNP Id: rs745759292
• ExAC: 11:118007844 GGAGA / G
• gnomAD v2: 11-118007844-GGAGA-G
• gnomAD v3: 11-118137129-GGAGA-G
• gnomAD v4: 11-118137129-GGAGA-G
• MyVariant Identifiers: chr11:g.118007845_118007848del (hg19) ; chr11:g.118137130_118137133del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.118137134_118137137del , CM000673.2:g.118137134_118137137del	GRCh38
NC_000011.9:g.118007849_118007852del , CM000673.1:g.118007849_118007852del	GRCh37
NC_000011.8:g.117513059_117513062del	NCBI36
NG_011710.1:g.20783_20786del , LRG_330:g.20783_20786del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324727.9:c.594-13_594-10del MANE Select	ENSP00000322460.4:n.594-13_594-10del
ENST00000324727.8:c.594-13_594-10del	ENSP00000322460.4:n.594-13_594-10del
ENST00000415030.6:n.737-13_737-10del
ENST00000423160.2:n.228-13_228-10del
ENST00000529878.1:c.192-13_192-10del	ENSP00000436343.1:n.192-13_192-10del
ENST00000531550.1:n.659-13_659-10del
NM_001142348.1:c.192-13_192-10del	NP_001135820.1:n.192-13_192-10del
NM_001142349.1:c.264-13_264-10del	NP_001135821.1:n.264-13_264-10del
NM_174934.3:c.594-13_594-10del , LRG_330t1:c.594-13_594-10del	NP_777594.1:n.594-13_594-10del
NR_024527.1:n.619-13_619-10del
NM_001142348.2:c.192-13_192-10del	NP_001135820.1:n.192-13_192-10del
NM_001142349.2:c.264-13_264-10del	NP_001135821.1:n.264-13_264-10del
NR_024527.2:n.583-13_583-10del
NM_174934.4:c.594-13_594-10del MANE Select	NP_777594.1:n.594-13_594-10del