Canonical Allele Identifier: CA338273469

Gene: SDHB

Linked Data

• gnomAD v4: 1-17027857-G-T
• COSMIC: COSM5705031
• MyVariant Identifiers: chr1:g.17354352G>T (hg19) ; chr1:g.17027857G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.17027857G>T , CM000663.2:g.17027857G>T	GRCh38
NC_000001.10:g.17354352G>T , CM000663.1:g.17354352G>T	GRCh37
NC_000001.9:g.17226939G>T	NCBI36
NG_012340.1:g.31314C>A , LRG_316:g.31314C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000463045.3:c.261C>A	ENSP00000481376.2:p.Ser87Arg
ENST00000491274.6:c.390C>A	ENSP00000480482.2:p.Ser130Arg
ENST00000375499.8:c.432C>A MANE Select	ENSP00000364649.3:p.Ser144Arg
ENST00000375499.7:c.432C>A	ENSP00000364649.3:p.Ser144Arg
ENST00000463045.2:c.261C>A	ENSP00000481376.1:p.Ser87Arg
ENST00000475506.1:n.349C>A
ENST00000485515.5:n.366C>A
ENST00000491274.5:c.390C>A	ENSP00000480482.1:p.Ser130Arg
NM_003000.2:c.432C>A , LRG_316t1:c.432C>A	NP_002991.2:p.Ser144Arg
NM_003000.3:c.432C>A MANE Select	NP_002991.2:p.Ser144Arg