Canonical Allele Identifier: CA382777609

Gene: SCN4B

Linked Data

• ClinVar Variation Id: 1744112
• ClinVar RCV Id: RCV002340715
• MyVariant Identifiers: chr11:g.118012024A>T (hg19) ; chr11:g.118141309A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.118141309A>T , CM000673.2:g.118141309A>T	GRCh38
NC_000011.9:g.118012024A>T , CM000673.1:g.118012024A>T	GRCh37
NC_000011.8:g.117517234A>T	NCBI36
NG_011710.1:g.16607T>A , LRG_330:g.16607T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324727.9:c.491T>A MANE Select	ENSP00000322460.4:p.Leu164His
ENST00000324727.8:c.491T>A	ENSP00000322460.4:p.Leu164His
ENST00000415030.6:n.634T>A
ENST00000423160.2:n.125T>A
ENST00000529878.1:c.89T>A	ENSP00000436343.1:p.Leu30His
ENST00000531550.1:n.556T>A
ENST00000532138.1:n.747T>A
NM_001142348.1:c.89T>A	NP_001135820.1:p.Leu30His
NM_001142349.1:c.161T>A	NP_001135821.1:p.Leu54His
NM_174934.3:c.491T>A , LRG_330t1:c.491T>A	NP_777594.1:p.Leu164His
NR_024527.1:n.516T>A
NM_001142348.2:c.89T>A	NP_001135820.1:p.Leu30His
NM_001142349.2:c.161T>A	NP_001135821.1:p.Leu54His
NR_024527.2:n.480T>A
NM_174934.4:c.491T>A MANE Select	NP_777594.1:p.Leu164His