Canonical Allele Identifier: CA6300216

Gene: SCN4B

Linked Data

• ClinVar Variation Id: 506980
• ClinVar RCV Id: RCV000606219 ; RCV002062876 ; RCV002331036
• dbSNP Id: rs373045667
• ExAC: 11:118014579 G / A
• gnomAD v2: 11-118014579-G-A
• gnomAD v3: 11-118143864-G-A
• gnomAD v4: 11-118143864-G-A
• MyVariant Identifiers: chr11:g.118014579G>A (hg19) ; chr11:g.118143864G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.118143864G>A , CM000673.2:g.118143864G>A	GRCh38
NC_000011.9:g.118014579G>A , CM000673.1:g.118014579G>A	GRCh37
NC_000011.8:g.117519789G>A	NCBI36
NG_011710.1:g.14052C>T , LRG_330:g.14052C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324727.9:c.432C>T MANE Select	ENSP00000322460.4:p.His144=
ENST00000324727.8:c.432C>T	ENSP00000322460.4:p.His144=
ENST00000415030.6:n.575C>T
ENST00000529878.1:c.62-2528C>T	ENSP00000436343.1:n.62-2528C>T
ENST00000532138.1:n.719+123C>T
NM_001142348.1:c.62-2528C>T	NP_001135820.1:n.62-2528C>T
NM_001142349.1:c.102C>T	NP_001135821.1:p.His34=
NM_174934.3:c.432C>T , LRG_330t1:c.432C>T	NP_777594.1:p.His144=
NR_024527.1:n.488+123C>T
NM_001142348.2:c.62-2528C>T	NP_001135820.1:n.62-2528C>T
NM_001142349.2:c.102C>T	NP_001135821.1:p.His34=
NR_024527.2:n.452+123C>T
NM_174934.4:c.432C>T MANE Select	NP_777594.1:p.His144=