Canonical Allele Identifier: CA089606
Gene: SDHB HGNC NCBI

Linked Data

ClinVar Variation Id: 824499
ClinVar RCV Id: RCV001021652 RCV001036784 RCV004004618 RCV004536053
dbSNP Id: rs771004483
ExAC: 1:17355118 A / G
gnomAD v2: 1-17355118-A-G
gnomAD v4: 1-17028623-A-G
MyVariant Identifiers: chr1:g.17355118A>G (hg19) chr1:g.17028623A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.17028623A>G , CM000663.2:g.17028623A>G GRCh38
NC_000001.10:g.17355118A>G , CM000663.1:g.17355118A>G GRCh37
NC_000001.9:g.17227705A>G NCBI36
NG_012340.1:g.30548T>C , LRG_316:g.30548T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000463045.3:c.229T>C ENSP00000481376.2:p.Tyr77His
ENST00000491274.6:c.358T>C ENSP00000480482.2:p.Tyr120His
ENST00000375499.8:c.400T>C MANE Select ENSP00000364649.3:p.Tyr134His
ENST00000375499.7:c.400T>C ENSP00000364649.3:p.Tyr134His
ENST00000463045.2:c.229T>C ENSP00000481376.1:p.Tyr77His
ENST00000475506.1:n.317T>C
ENST00000485515.5:n.357+31T>C
ENST00000491274.5:c.358T>C ENSP00000480482.1:p.Tyr120His
NM_003000.2:c.400T>C , LRG_316t1:c.400T>C NP_002991.2:p.Tyr134His
NM_003000.3:c.400T>C MANE Select NP_002991.2:p.Tyr134His
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