Canonical Allele Identifier: CA236795
Gene: SCN4B HGNC NCBI
MyVariant.info:
GRCh38 chr11:g.118145179C>G
GRCh37 chr11:g.118015894C>G
Revel Score:
ENST00000324727 (MANE Select) 0.199
gnomAD v2:
11:118015894 C / G
gnomAD v3:
11:118145179 C / G
gnomAD v4:
chr11-118145179-C-G
Joint Max Group AF 0.00277279 (SAS)
Genomes Max Group AF 0.001771 (SAS)
Exomes Max Group AF 0.00276944 (SAS)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.118145179C>G , CM000673.2:g.118145179C>G GRCh38
NC_000011.9:g.118015894C>G , CM000673.1:g.118015894C>G GRCh37
NC_000011.8:g.117521104C>G NCBI36
NG_011710.1:g.12737G>C , LRG_330:g.12737G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000324727.9:c.112G>C MANE Select ENSP00000322460.4:p.Ala38Pro
ENST00000324727.8:c.112G>C ENSP00000322460.4:p.Ala38Pro
ENST00000415030.6:n.255G>C
ENST00000529878.1:c.62-3843G>C ENSP00000436343.1:n.62-3843G>C
ENST00000532138.1:n.522G>C
NM_001142348.1:c.62-3843G>C NP_001135820.1:n.62-3843G>C
NM_001142349.1:c.-219G>C NP_001135821.1:n.-219G>C
NM_174934.3:c.112G>C , LRG_330t1:c.112G>C NP_777594.1:p.Ala38Pro
NR_024527.1:n.291G>C
NM_001142348.2:c.62-3843G>C NP_001135820.1:n.62-3843G>C
NM_001142349.2:c.-219G>C NP_001135821.1:n.-219G>C
NR_024527.2:n.255G>C
NM_174934.4:c.112G>C MANE Select NP_777594.1:p.Ala38Pro
Search 100 bp 5'
Search 100 bp 3'