Canonical Allele Identifier: CA16617022

Gene: SDHB

Linked Data

• ClinVar Variation Id: 548757
• ClinVar RCV Id: RCV000481304 ; RCV000662623 ; RCV002060795
• dbSNP Id: rs1064794554
• gnomAD v4: 1-17027873-T-TAAGAGG
• MyVariant Identifiers: chr1:g.17354369_17354374dup (hg19) ; chr1:g.17354368_17354369insAAGAGG (hg19) ; chr1:g.17027874_17027879dup (hg38) ; chr1:g.17027873_17027874insAAGAGG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.17027878_17027883dup , CM000663.2:g.17027878_17027883dup	GRCh38
NC_000001.10:g.17354373_17354378dup , CM000663.1:g.17354373_17354378dup	GRCh37
NC_000001.9:g.17226960_17226965dup	NCBI36
NG_012340.1:g.31292_31297dup , LRG_316:g.31292_31297dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000463045.3:c.253-14_253-9dup	ENSP00000481376.2:n.253-14_253-9dup
ENST00000491274.6:c.382-14_382-9dup	ENSP00000480482.2:n.382-14_382-9dup
ENST00000375499.8:c.424-14_424-9dup MANE Select	ENSP00000364649.3:n.424-14_424-9dup
ENST00000375499.7:c.424-14_424-9dup	ENSP00000364649.3:n.424-14_424-9dup
ENST00000463045.2:c.253-14_253-9dup	ENSP00000481376.1:n.253-14_253-9dup
ENST00000475506.1:n.341-14_341-9dup
ENST00000485515.5:n.358-14_358-9dup
ENST00000491274.5:c.382-14_382-9dup	ENSP00000480482.1:n.382-14_382-9dup
NM_003000.2:c.424-14_424-9dup , LRG_316t1:c.424-14_424-9dup	NP_002991.2:n.424-14_424-9dup
NM_003000.3:c.424-14_424-9dup MANE Select	NP_002991.2:n.424-14_424-9dup