Canonical Allele Identifier: CA382778114

Gene: SCN4B

Linked Data

• ClinVar Variation Id: 961525
• ClinVar RCV Id: RCV001235232
• dbSNP Id: rs1353607051
• gnomAD v2: 11-118014638-C-T
• gnomAD v4: 11-118143923-C-T
• MyVariant Identifiers: chr11:g.118014638C>T (hg19) ; chr11:g.118143923C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.118143923C>T , CM000673.2:g.118143923C>T	GRCh38
NC_000011.9:g.118014638C>T , CM000673.1:g.118014638C>T	GRCh37
NC_000011.8:g.117519848C>T	NCBI36
NG_011710.1:g.13993G>A , LRG_330:g.13993G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000324727.9:c.373G>A MANE Select	ENSP00000322460.4:p.Asp125Asn
ENST00000324727.8:c.373G>A	ENSP00000322460.4:p.Asp125Asn
ENST00000415030.6:n.516G>A
ENST00000529878.1:c.62-2587G>A	ENSP00000436343.1:n.62-2587G>A
ENST00000532138.1:n.719+64G>A
NM_001142348.1:c.62-2587G>A	NP_001135820.1:n.62-2587G>A
NM_001142349.1:c.43G>A	NP_001135821.1:p.Asp15Asn
NM_174934.3:c.373G>A , LRG_330t1:c.373G>A	NP_777594.1:p.Asp125Asn
NR_024527.1:n.488+64G>A
NM_001142348.2:c.62-2587G>A	NP_001135820.1:n.62-2587G>A
NM_001142349.2:c.43G>A	NP_001135821.1:p.Asp15Asn
NR_024527.2:n.452+64G>A
NM_174934.4:c.373G>A MANE Select	NP_777594.1:p.Asp125Asn