Canonical Allele Identifier: CA016085
Gene: SDHB HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.17022684C>T
GRCh37 chr1:g.17349179C>T
Revel Score:
ENST00000375499 (MANE Select) 0.940
gnomAD v2:
1:17349179 C / T
gnomAD v3:
1:17022684 C / T
gnomAD v4:
chr1-17022684-C-T
Joint Max Group AF 0.00000443 (AFR)
Genomes Max Group AF 0.00000801 (AFR)
Exomes Max Group AF 0.00000381 (NFE)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.17022684C>T , CM000663.2:g.17022684C>T GRCh38
NC_000001.10:g.17349179C>T , CM000663.1:g.17349179C>T GRCh37
NC_000001.9:g.17221766C>T NCBI36
NG_012340.1:g.36487G>A , LRG_316:g.36487G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000463045.3:c.518G>A ENSP00000481376.2:p.Arg173His
ENST00000491274.6:c.647G>A ENSP00000480482.2:p.Arg216His
ENST00000375499.8:c.689G>A MANE Select ENSP00000364649.3:p.Arg230His
ENST00000375499.7:c.689G>A ENSP00000364649.3:p.Arg230His
ENST00000475049.5:n.114G>A
ENST00000485092.5:n.353G>A
ENST00000485515.5:n.623G>A
NM_003000.2:c.689G>A , LRG_316t1:c.689G>A NP_002991.2:p.Arg230His
NM_003000.3:c.689G>A MANE Select NP_002991.2:p.Arg230His
Search 100 bp 5'
Search 100 bp 3'