Canonical Allele Identifier: CA338275011

Gene: SDHB

Linked Data

• dbSNP Id: rs876660346
• gnomAD v4: 1-17028711-G-C
• MyVariant Identifiers: chr1:g.17355206G>C (hg19) ; chr1:g.17028711G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.17028711G>C , CM000663.2:g.17028711G>C	GRCh38
NC_000001.10:g.17355206G>C , CM000663.1:g.17355206G>C	GRCh37
NC_000001.9:g.17227793G>C	NCBI36
NG_012340.1:g.30460C>G , LRG_316:g.30460C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000463045.3:c.141C>G	ENSP00000481376.2:p.Asn47Lys
ENST00000491274.6:c.270C>G	ENSP00000480482.2:p.Asn90Lys
ENST00000375499.8:c.312C>G MANE Select	ENSP00000364649.3:p.Asn104Lys
ENST00000375499.7:c.312C>G	ENSP00000364649.3:p.Asn104Lys
ENST00000463045.2:c.141C>G	ENSP00000481376.1:p.Asn47Lys
ENST00000475506.1:n.229C>G
ENST00000485515.5:n.300C>G
ENST00000491274.5:c.270C>G	ENSP00000480482.1:p.Asn90Lys
NM_003000.2:c.312C>G , LRG_316t1:c.312C>G	NP_002991.2:p.Asn104Lys
NM_003000.3:c.312C>G MANE Select	NP_002991.2:p.Asn104Lys