Canonical Allele Identifier: CA382778103

Gene: SCN4B

Linked Data

• ClinVar Variation Id: 537383
• ClinVar RCV Id: RCV000646219
• dbSNP Id: rs1555097541
• MyVariant Identifiers: chr11:g.118014635T>C (hg19) ; chr11:g.118143920T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.118143920T>C , CM000673.2:g.118143920T>C	GRCh38
NC_000011.9:g.118014635T>C , CM000673.1:g.118014635T>C	GRCh37
NC_000011.8:g.117519845T>C	NCBI36
NG_011710.1:g.13996A>G , LRG_330:g.13996A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000324727.9:c.376A>G MANE Select	ENSP00000322460.4:p.Thr126Ala
ENST00000324727.8:c.376A>G	ENSP00000322460.4:p.Thr126Ala
ENST00000415030.6:n.519A>G
ENST00000529878.1:c.62-2584A>G	ENSP00000436343.1:n.62-2584A>G
ENST00000532138.1:n.719+67A>G
NM_001142348.1:c.62-2584A>G	NP_001135820.1:n.62-2584A>G
NM_001142349.1:c.46A>G	NP_001135821.1:p.Thr16Ala
NM_174934.3:c.376A>G , LRG_330t1:c.376A>G	NP_777594.1:p.Thr126Ala
NR_024527.1:n.488+67A>G
NM_001142348.2:c.62-2584A>G	NP_001135820.1:n.62-2584A>G
NM_001142349.2:c.46A>G	NP_001135821.1:p.Thr16Ala
NR_024527.2:n.452+67A>G
NM_174934.4:c.376A>G MANE Select	NP_777594.1:p.Thr126Ala