Canonical Allele Identifier: CA18666444

Gene: SDHB

Linked Data

• dbSNP Id: rs201000207
• gnomAD v2: 1-17354933-T-C
• gnomAD v3: 1-17028438-T-C
• gnomAD v4: 1-17028438-T-C
• MyVariant Identifiers: chr1:g.17354933T>C (hg19) ; chr1:g.17028438T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.17028438T>C , CM000663.2:g.17028438T>C	GRCh38
NC_000001.10:g.17354933T>C , CM000663.1:g.17354933T>C	GRCh37
NC_000001.9:g.17227520T>C	NCBI36
NG_012340.1:g.30733A>G , LRG_316:g.30733A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000463045.3:c.252+162A>G	ENSP00000481376.2:n.252+162A>G
ENST00000491274.6:c.381+162A>G	ENSP00000480482.2:n.381+162A>G
ENST00000375499.8:c.423+162A>G MANE Select	ENSP00000364649.3:n.423+162A>G
ENST00000375499.7:c.423+162A>G	ENSP00000364649.3:n.423+162A>G
ENST00000463045.2:c.252+162A>G	ENSP00000481376.1:n.252+162A>G
ENST00000475506.1:n.340+162A>G
ENST00000485515.5:n.357+216A>G
ENST00000491274.5:c.381+162A>G	ENSP00000480482.1:n.381+162A>G
NM_003000.2:c.423+162A>G , LRG_316t1:c.423+162A>G	NP_002991.2:n.423+162A>G
NM_003000.3:c.423+162A>G MANE Select	NP_002991.2:n.423+162A>G