Canonical Allele Identifier: CA302232
Gene: SCN4B HGNC NCBI

Linked Data

ClinVar Variation Id: 190899
ClinVar RCV Id: RCV000171081 RCV002336404 RCV002485078
dbSNP Id: rs778247172
ExAC: 11:118014557 C / T
gnomAD v2: 11-118014557-C-T
gnomAD v3: 11-118143842-C-T
gnomAD v4: 11-118143842-C-T
COSMIC: COSM3720073
MyVariant Identifiers: chr11:g.118014557C>T (hg19) chr11:g.118143842C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.118143842C>T , CM000673.2:g.118143842C>T GRCh38
NC_000011.9:g.118014557C>T , CM000673.1:g.118014557C>T GRCh37
NC_000011.8:g.117519767C>T NCBI36
NG_011710.1:g.14074G>A , LRG_330:g.14074G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000324727.9:c.454G>A MANE Select ENSP00000322460.4:p.Val152Ile
ENST00000324727.8:c.454G>A ENSP00000322460.4:p.Val152Ile
ENST00000415030.6:n.597G>A
ENST00000529878.1:c.62-2506G>A ENSP00000436343.1:n.62-2506G>A
ENST00000532138.1:n.719+145G>A
NM_001142348.1:c.62-2506G>A NP_001135820.1:n.62-2506G>A
NM_001142349.1:c.124G>A NP_001135821.1:p.Val42Ile
NM_174934.3:c.454G>A , LRG_330t1:c.454G>A NP_777594.1:p.Val152Ile
NR_024527.1:n.488+145G>A
NM_001142348.2:c.62-2506G>A NP_001135820.1:n.62-2506G>A
NM_001142349.2:c.124G>A NP_001135821.1:p.Val42Ile
NR_024527.2:n.452+145G>A
NM_174934.4:c.454G>A MANE Select NP_777594.1:p.Val152Ile
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