Canonical Allele Identifier: CA18662034

Gene: SDHB

Linked Data

• dbSNP Id: rs940733318
• gnomAD v3: 1-17022497-T-G
• gnomAD v4: 1-17022497-T-G
• MyVariant Identifiers: chr1:g.17348992T>G (hg19) ; chr1:g.17022497T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.17022497T>G , CM000663.2:g.17022497T>G	GRCh38
NC_000001.10:g.17348992T>G , CM000663.1:g.17348992T>G	GRCh37
NC_000001.9:g.17221579T>G	NCBI36
NG_012340.1:g.36674A>C , LRG_316:g.36674A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000463045.3:c.594+111A>C	ENSP00000481376.2:n.594+111A>C
ENST00000491274.6:c.723+111A>C	ENSP00000480482.2:n.723+111A>C
ENST00000375499.8:c.765+111A>C MANE Select	ENSP00000364649.3:n.765+111A>C
ENST00000375499.7:c.765+111A>C	ENSP00000364649.3:n.765+111A>C
ENST00000475049.5:n.190+111A>C
ENST00000485092.5:n.429+111A>C
NM_003000.2:c.765+111A>C , LRG_316t1:c.765+111A>C	NP_002991.2:n.765+111A>C
NM_003000.3:c.765+111A>C MANE Select	NP_002991.2:n.765+111A>C