Canonical Allele Identifier: CA18610343

Gene: SDHB

Linked Data

• dbSNP Id: rs1040352894
• gnomAD v2: 1-17371219-C-T
• gnomAD v3: 1-17044724-C-T
• gnomAD v4: 1-17044724-C-T
• MyVariant Identifiers: chr1:g.17371219C>T (hg19) ; chr1:g.17044724C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.17044724C>T , CM000663.2:g.17044724C>T	GRCh38
NC_000001.10:g.17371219C>T , CM000663.1:g.17371219C>T	GRCh37
NC_000001.9:g.17243806C>T	NCBI36
NG_012340.1:g.14447G>A , LRG_316:g.14447G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000463045.3:c.29+37G>A	ENSP00000481376.2:n.29+37G>A
ENST00000491274.6:c.158+37G>A	ENSP00000480482.2:n.158+37G>A
ENST00000375499.8:c.200+37G>A MANE Select	ENSP00000364649.3:n.200+37G>A
ENST00000375499.7:c.200+37G>A	ENSP00000364649.3:n.200+37G>A
ENST00000463045.2:c.29+37G>A	ENSP00000481376.1:n.29+37G>A
ENST00000466613.2:n.212+37G>A
ENST00000475506.1:n.117+37G>A
ENST00000485515.5:n.188+37G>A
ENST00000491274.5:c.158+37G>A	ENSP00000480482.1:n.158+37G>A
NM_003000.2:c.200+37G>A , LRG_316t1:c.200+37G>A	NP_002991.2:n.200+37G>A
NM_003000.3:c.200+37G>A MANE Select	NP_002991.2:n.200+37G>A