Canonical Allele Identifier: CA338272998
Gene: SDHB HGNC NCBI

Linked Data

ClinVar Variation Id: 528729
ClinVar RCV Id: RCV000633952
dbSNP Id: rs1553177686
gnomAD v3: 1-17027825-G-A
gnomAD v4: 1-17027825-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.17027825G>A , CM000663.2:g.17027825G>A GRCh38
NC_000001.10:g.17354320G>A , CM000663.1:g.17354320G>A GRCh37
NC_000001.9:g.17226907G>A NCBI36
NG_012340.1:g.31346C>T , LRG_316:g.31346C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000463045.3:c.293C>T ENSP00000481376.2:p.Pro98Leu
ENST00000491274.6:c.422C>T ENSP00000480482.2:p.Pro141Leu
ENST00000375499.8:c.464C>T MANE Select ENSP00000364649.3:p.Pro155Leu
ENST00000375499.7:c.464C>T ENSP00000364649.3:p.Pro155Leu
ENST00000463045.2:c.293C>T ENSP00000481376.1:p.Pro98Leu
ENST00000475506.1:n.381C>T
ENST00000485515.5:n.398C>T
ENST00000491274.5:c.422C>T ENSP00000480482.1:p.Pro141Leu
NM_003000.2:c.464C>T , LRG_316t1:c.464C>T NP_002991.2:p.Pro155Leu
NM_003000.3:c.464C>T MANE Select NP_002991.2:p.Pro155Leu