Canonical Allele Identifier: CA382778113

Gene: SCN4B

Linked Data

• ClinVar Variation Id: 1734465
• ClinVar RCV Id: RCV002349231
• MyVariant Identifiers: chr11:g.118014638C>G (hg19) ; chr11:g.118143923C>G (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324727.9:c.373G>C MANE Select	ENSP00000322460.4:p.Asp125His
ENST00000324727.8:c.373G>C	ENSP00000322460.4:p.Asp125His
ENST00000415030.6:n.516G>C
ENST00000529878.1:c.62-2587G>C	ENSP00000436343.1:n.62-2587G>C
ENST00000532138.1:n.719+64G>C
NM_001142348.1:c.62-2587G>C	NP_001135820.1:n.62-2587G>C
NM_001142349.1:c.43G>C	NP_001135821.1:p.Asp15His
NM_174934.3:c.373G>C , LRG_330t1:c.373G>C	NP_777594.1:p.Asp125His
NR_024527.1:n.488+64G>C
NM_001142348.2:c.62-2587G>C	NP_001135820.1:n.62-2587G>C
NM_001142349.2:c.43G>C	NP_001135821.1:p.Asp15His
NR_024527.2:n.452+64G>C
NM_174934.4:c.373G>C MANE Select	NP_777594.1:p.Asp125His