Canonical Allele Identifier: CA6299962
Gene: SCN4B HGNC NCBI
gnomAD v2:
11:118004803 C / G
gnomAD v3:
11:118134088 C / G
gnomAD v4:
chr11-118134088-C-G
Joint Max Group AF 0.0014688 (NFE)
Genomes Max Group AF 0.00122235 (NFE)
Exomes Max Group AF 0.00150345 (NFE)
ClinVar Allele:
325244
ClinVar RCV:
RCV000287473
RCV003401293
ClinVar Variation:
302589
dbSNP:
757631990
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.118134088C>G , CM000673.2:g.118134088C>G GRCh38
NC_000011.9:g.118004803C>G , CM000673.1:g.118004803C>G GRCh37
NC_000011.8:g.117510013C>G NCBI36
NG_011710.1:g.23828G>C , LRG_330:g.23828G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000324727.9:c.*2939G>C MANE Select ENSP00000322460.4:n.*2939G>C
ENST00000324727.8:c.*2939G>C ENSP00000322460.4:n.*2939G>C
ENST00000415030.6:n.3769G>C
ENST00000423160.2:n.3260G>C
NM_001142348.1:c.*2939G>C NP_001135820.1:n.*2939G>C
NM_001142349.1:c.*2939G>C NP_001135821.1:n.*2939G>C
NM_174934.3:c.*2939G>C , LRG_330t1:c.*2939G>C NP_777594.1:n.*2939G>C
NR_024527.1:n.3651G>C
NM_001142348.2:c.*2939G>C NP_001135820.1:n.*2939G>C
NM_001142349.2:c.*2939G>C NP_001135821.1:n.*2939G>C
NR_024527.2:n.3615G>C
NM_174934.4:c.*2939G>C MANE Select NP_777594.1:n.*2939G>C
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