Canonical Allele Identifier: CA6300283
Gene: SCN4B HGNC NCBI
MyVariant.info:
GRCh38 chr11:g.118145115A>G
GRCh37 chr11:g.118015830A>G
Revel Score:
ENST00000324727 (MANE Select) 0.285
gnomAD v2:
11:118015830 A / G
gnomAD v3:
11:118145115 A / G
gnomAD v4:
chr11-118145115-A-G
Joint Max Group AF 0.00015374 (SAS)
Exomes Max Group AF 0.00015298 (SAS)
ClinVar RCV:
RCV000274637
RCV004021498
ClinVar Variation:
302648
dbSNP:
764865890
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.118145115A>G , CM000673.2:g.118145115A>G GRCh38
NC_000011.9:g.118015830A>G , CM000673.1:g.118015830A>G GRCh37
NC_000011.8:g.117521040A>G NCBI36
NG_011710.1:g.12801T>C , LRG_330:g.12801T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000324727.9:c.176T>C MANE Select ENSP00000322460.4:p.Phe59Ser
ENST00000324727.8:c.176T>C ENSP00000322460.4:p.Phe59Ser
ENST00000415030.6:n.319T>C
ENST00000529878.1:c.62-3779T>C ENSP00000436343.1:n.62-3779T>C
ENST00000532138.1:n.586T>C
NM_001142348.1:c.62-3779T>C NP_001135820.1:n.62-3779T>C
NM_001142349.1:c.-155T>C NP_001135821.1:n.-155T>C
NM_174934.3:c.176T>C , LRG_330t1:c.176T>C NP_777594.1:p.Phe59Ser
NR_024527.1:n.355T>C
NM_001142348.2:c.62-3779T>C NP_001135820.1:n.62-3779T>C
NM_001142349.2:c.-155T>C NP_001135821.1:n.-155T>C
NR_024527.2:n.319T>C
NM_174934.4:c.176T>C MANE Select NP_777594.1:p.Phe59Ser
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