Canonical Allele Identifier: CA089636

Gene: SDHB

Linked Data

• ClinVar Variation Id: 1643371
• ClinVar RCV Id: RCV002136069 ; RCV002346510
• dbSNP Id: rs780870337
• ExAC: 1:17354273 G / A
• gnomAD v2: 1-17354273-G-A
• gnomAD v4: 1-17027778-G-A
• MyVariant Identifiers: chr1:g.17354273G>A (hg19) ; chr1:g.17027778G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.17027778G>A , CM000663.2:g.17027778G>A	GRCh38
NC_000001.10:g.17354273G>A , CM000663.1:g.17354273G>A	GRCh37
NC_000001.9:g.17226860G>A	NCBI36
NG_012340.1:g.31393C>T , LRG_316:g.31393C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000463045.3:c.340C>T	ENSP00000481376.2:p.Leu114=
ENST00000491274.6:c.469C>T	ENSP00000480482.2:p.Leu157=
ENST00000375499.8:c.511C>T MANE Select	ENSP00000364649.3:p.Leu171=
ENST00000375499.7:c.511C>T	ENSP00000364649.3:p.Leu171=
ENST00000463045.2:c.340C>T	ENSP00000481376.1:p.Leu114=
ENST00000475506.1:n.428C>T
ENST00000485515.5:n.445C>T
ENST00000491274.5:c.469C>T	ENSP00000480482.1:p.Leu157=
NM_003000.2:c.511C>T , LRG_316t1:c.511C>T	NP_002991.2:p.Leu171=
NM_003000.3:c.511C>T MANE Select	NP_002991.2:p.Leu171=