Canonical Allele Identifier: CA338230874
Gene: SDHB HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.17054012G>A
GRCh37 chr1:g.17380507G>A
Revel Score:
ENST00000375499 (MANE Select) 0.577
gnomAD v2:
1:17380507 G / A
gnomAD v4:
chr1-17054012-G-A
Joint Max Group AF 0.00000124 (NFE)
Exomes Max Group AF 0.00000132 (NFE)
ClinVar Allele:
447306
ClinVar RCV:
RCV000557203
RCV003302799
ClinVar Variation:
459175
dbSNP:
11203289
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.17054012G>A , CM000663.2:g.17054012G>A GRCh38
NC_000001.10:g.17380507G>A , CM000663.1:g.17380507G>A GRCh37
NC_000001.9:g.17253094G>A NCBI36
NG_012340.1:g.5159C>T , LRG_316:g.5159C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000375499.8:c.8C>T MANE Select ENSP00000364649.3:p.Ala3Val
ENST00000375499.7:c.8C>T ENSP00000364649.3:p.Ala3Val
ENST00000466613.2:n.20C>T
NM_003000.2:c.8C>T , LRG_316t1:c.8C>T NP_002991.2:p.Ala3Val
NM_003000.3:c.8C>T MANE Select NP_002991.2:p.Ala3Val
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