Canonical Allele Identifier: CA10662068

Gene: SDHB

Linked Data

• ClinVar Variation Id: 1252797
• ClinVar RCV Id: RCV001661095
• dbSNP Id: rs12073028
• gnomAD v2: 1-17371152-T-C
• gnomAD v3: 1-17044657-T-C
• gnomAD v4: 1-17044657-T-C
• MyVariant Identifiers: chr1:g.17371152T>C (hg19) ; chr1:g.17044657T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.17044657T>C , CM000663.2:g.17044657T>C	GRCh38
NC_000001.10:g.17371152T>C , CM000663.1:g.17371152T>C	GRCh37
NC_000001.9:g.17243739T>C	NCBI36
NG_012340.1:g.14514A>G , LRG_316:g.14514A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000463045.3:c.29+104A>G	ENSP00000481376.2:n.29+104A>G
ENST00000491274.6:c.158+104A>G	ENSP00000480482.2:n.158+104A>G
ENST00000375499.8:c.200+104A>G MANE Select	ENSP00000364649.3:n.200+104A>G
ENST00000375499.7:c.200+104A>G	ENSP00000364649.3:n.200+104A>G
ENST00000463045.2:c.29+104A>G	ENSP00000481376.1:n.29+104A>G
ENST00000466613.2:n.212+104A>G
ENST00000475506.1:n.117+104A>G
ENST00000485515.5:n.188+104A>G
ENST00000491274.5:c.158+104A>G	ENSP00000480482.1:n.158+104A>G
NM_003000.2:c.200+104A>G , LRG_316t1:c.200+104A>G	NP_002991.2:n.200+104A>G
NM_003000.3:c.200+104A>G MANE Select	NP_002991.2:n.200+104A>G