Canonical Allele Identifier: CA6300064
Gene: SCN4B HGNC NCBI

Linked Data

ClinVar Variation Id: 302627
ClinVar RCV Id: RCV000269523
dbSNP Id: rs541268607
ExAC: 11:118006763 G / T
gnomAD v2: 11-118006763-G-T
gnomAD v3: 11-118136048-G-T
gnomAD v4: 11-118136048-G-T
MyVariant Identifiers: chr11:g.118006763G>T (hg19) chr11:g.118136048G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.118136048G>T , CM000673.2:g.118136048G>T GRCh38
NC_000011.9:g.118006763G>T , CM000673.1:g.118006763G>T GRCh37
NC_000011.8:g.117511973G>T NCBI36
NG_011710.1:g.21868C>A , LRG_330:g.21868C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000324727.9:c.*979C>A MANE Select ENSP00000322460.4:n.*979C>A
ENST00000324727.8:c.*979C>A ENSP00000322460.4:n.*979C>A
ENST00000415030.6:n.1809C>A
ENST00000423160.2:n.1300C>A
NM_001142348.1:c.*979C>A NP_001135820.1:n.*979C>A
NM_001142349.1:c.*979C>A NP_001135821.1:n.*979C>A
NM_174934.3:c.*979C>A , LRG_330t1:c.*979C>A NP_777594.1:n.*979C>A
NR_024527.1:n.1691C>A
NM_001142348.2:c.*979C>A NP_001135820.1:n.*979C>A
NM_001142349.2:c.*979C>A NP_001135821.1:n.*979C>A
NR_024527.2:n.1655C>A
NM_174934.4:c.*979C>A MANE Select NP_777594.1:n.*979C>A
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