Canonical Allele Identifier: CA235713
Gene: SCN4B HGNC NCBI
MyVariant.info:
GRCh38 chr11:g.118145097T>A
GRCh37 chr11:g.118015812T>A
Revel Score:
ENST00000324727 (MANE Select) 0.233
gnomAD v2:
11:118015812 T / A
gnomAD v3:
11:118145097 T / A
gnomAD v4:
chr11-118145097-T-A
Joint Max Group AF 0.0005401 (MID)
Genomes Max Group AF 0.00027991 (NFE)
Exomes Max Group AF 0.00056879 (MID)
ClinVar Allele:
188498
ClinVar RCV:
RCV000171074
RCV000619132
RCV001078793
ClinVar Variation:
190891
dbSNP:
112363898
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.118145097T>A , CM000673.2:g.118145097T>A GRCh38
NC_000011.9:g.118015812T>A , CM000673.1:g.118015812T>A GRCh37
NC_000011.8:g.117521022T>A NCBI36
NG_011710.1:g.12819A>T , LRG_330:g.12819A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000324727.9:c.194A>T MANE Select ENSP00000322460.4:p.His65Leu
ENST00000324727.8:c.194A>T ENSP00000322460.4:p.His65Leu
ENST00000415030.6:n.337A>T
ENST00000529878.1:c.62-3761A>T ENSP00000436343.1:n.62-3761A>T
ENST00000532138.1:n.604A>T
NM_001142348.1:c.62-3761A>T NP_001135820.1:n.62-3761A>T
NM_001142349.1:c.-137A>T NP_001135821.1:n.-137A>T
NM_174934.3:c.194A>T , LRG_330t1:c.194A>T NP_777594.1:p.His65Leu
NR_024527.1:n.373A>T
NM_001142348.2:c.62-3761A>T NP_001135820.1:n.62-3761A>T
NM_001142349.2:c.-137A>T NP_001135821.1:n.-137A>T
NR_024527.2:n.337A>T
NM_174934.4:c.194A>T MANE Select NP_777594.1:p.His65Leu
Search 100 bp 5'
Search 100 bp 3'