Canonical Allele Identifier: CA236970
Gene: SCN4B HGNC NCBI
MyVariant.info:
GRCh38 chr11:g.118137107C>T
GRCh37 chr11:g.118007822C>T
Revel Score:
ENST00000324727 (MANE Select) 0.496
ENST00000529878 0.496
gnomAD v2:
11:118007822 C / T
gnomAD v3:
11:118137107 C / T
gnomAD v4:
chr11-118137107-C-T
Joint Max Group AF 0.00082917 (AFR)
Genomes Max Group AF 0.00085271 (AFR)
Exomes Max Group AF 0.00064464 (AFR)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.118137107C>T , CM000673.2:g.118137107C>T GRCh38
NC_000011.9:g.118007822C>T , CM000673.1:g.118007822C>T GRCh37
NC_000011.8:g.117513032C>T NCBI36
NG_011710.1:g.20809G>A , LRG_330:g.20809G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000324727.9:c.607G>A MANE Select ENSP00000322460.4:p.Val203Met
ENST00000324727.8:c.607G>A ENSP00000322460.4:p.Val203Met
ENST00000415030.6:n.750G>A
ENST00000423160.2:n.241G>A
ENST00000529878.1:c.205G>A ENSP00000436343.1:p.Val69Met
ENST00000531550.1:n.672G>A
NM_001142348.1:c.205G>A NP_001135820.1:p.Val69Met
NM_001142349.1:c.277G>A NP_001135821.1:p.Val93Met
NM_174934.3:c.607G>A , LRG_330t1:c.607G>A NP_777594.1:p.Val203Met
NR_024527.1:n.632G>A
NM_001142348.2:c.205G>A NP_001135820.1:p.Val69Met
NM_001142349.2:c.277G>A NP_001135821.1:p.Val93Met
NR_024527.2:n.596G>A
NM_174934.4:c.607G>A MANE Select NP_777594.1:p.Val203Met
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