Canonical Allele Identifier: CA521037376

Gene: SDHB

Linked Data

• dbSNP Id: rs1316496623
• gnomAD v2: 1-17348660-T-C
• gnomAD v3: 1-17022165-T-C
• gnomAD v4: 1-17022165-T-C
• MyVariant Identifiers: chr1:g.17348660T>C (hg19) ; chr1:g.17022165T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.17022165T>C , CM000663.2:g.17022165T>C	GRCh38
NC_000001.10:g.17348660T>C , CM000663.1:g.17348660T>C	GRCh37
NC_000001.9:g.17221247T>C	NCBI36
NG_012340.1:g.37006A>G , LRG_316:g.37006A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000463045.3:c.594+443A>G	ENSP00000481376.2:n.594+443A>G
ENST00000491274.6:c.723+443A>G	ENSP00000480482.2:n.723+443A>G
ENST00000375499.8:c.765+443A>G MANE Select	ENSP00000364649.3:n.765+443A>G
ENST00000375499.7:c.765+443A>G	ENSP00000364649.3:n.765+443A>G
ENST00000475049.5:n.190+443A>G
ENST00000485092.5:n.429+443A>G
NM_003000.2:c.765+443A>G , LRG_316t1:c.765+443A>G	NP_002991.2:n.765+443A>G
NM_003000.3:c.765+443A>G MANE Select	NP_002991.2:n.765+443A>G