Canonical Allele Identifier: CA18661861

Gene: SDHB

Linked Data

• dbSNP Id: rs535166477
• gnomAD v2: 1-17348760-G-T
• gnomAD v3: 1-17022265-G-T
• gnomAD v4: 1-17022265-G-T
• MyVariant Identifiers: chr1:g.17348760G>T (hg19) ; chr1:g.17022265G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.17022265G>T , CM000663.2:g.17022265G>T	GRCh38
NC_000001.10:g.17348760G>T , CM000663.1:g.17348760G>T	GRCh37
NC_000001.9:g.17221347G>T	NCBI36
NG_012340.1:g.36906C>A , LRG_316:g.36906C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000463045.3:c.594+343C>A	ENSP00000481376.2:n.594+343C>A
ENST00000491274.6:c.723+343C>A	ENSP00000480482.2:n.723+343C>A
ENST00000375499.8:c.765+343C>A MANE Select	ENSP00000364649.3:n.765+343C>A
ENST00000375499.7:c.765+343C>A	ENSP00000364649.3:n.765+343C>A
ENST00000475049.5:n.190+343C>A
ENST00000485092.5:n.429+343C>A
NM_003000.2:c.765+343C>A , LRG_316t1:c.765+343C>A	NP_002991.2:n.765+343C>A
NM_003000.3:c.765+343C>A MANE Select	NP_002991.2:n.765+343C>A