Canonical Allele Identifier: CA10637698
Gene: SCN4B HGNC NCBI

Linked Data

ClinVar Variation Id: 302616
ClinVar RCV Id: RCV000318724
dbSNP Id: rs886047724
gnomAD v2: 11-118006549-A-G
gnomAD v3: 11-118135834-A-G
gnomAD v4: 11-118135834-A-G
MyVariant Identifiers: chr11:g.118006549A>G (hg19) chr11:g.118135834A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.118135834A>G , CM000673.2:g.118135834A>G GRCh38
NC_000011.9:g.118006549A>G , CM000673.1:g.118006549A>G GRCh37
NC_000011.8:g.117511759A>G NCBI36
NG_011710.1:g.22082T>C , LRG_330:g.22082T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000324727.9:c.*1193T>C MANE Select ENSP00000322460.4:n.*1193T>C
ENST00000324727.8:c.*1193T>C ENSP00000322460.4:n.*1193T>C
ENST00000415030.6:n.2023T>C
ENST00000423160.2:n.1514T>C
NM_001142348.1:c.*1193T>C NP_001135820.1:n.*1193T>C
NM_001142349.1:c.*1193T>C NP_001135821.1:n.*1193T>C
NM_174934.3:c.*1193T>C , LRG_330t1:c.*1193T>C NP_777594.1:n.*1193T>C
NR_024527.1:n.1905T>C
NM_001142348.2:c.*1193T>C NP_001135820.1:n.*1193T>C
NM_001142349.2:c.*1193T>C NP_001135821.1:n.*1193T>C
NR_024527.2:n.1869T>C
NM_174934.4:c.*1193T>C MANE Select NP_777594.1:n.*1193T>C
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