Canonical Allele Identifier: CA089677

Gene: SDHB

Linked Data

• ClinVar Variation Id: 239434
• ClinVar RCV Id: RCV000231888 ; RCV001024856 ; RCV001550804
• dbSNP Id: rs199653121
• ExAC: 1:17350504 G / A
• gnomAD v2: 1-17350504-G-A
• gnomAD v3: 1-17024009-G-A
• gnomAD v4: 1-17024009-G-A
• MyVariant Identifiers: chr1:g.17350504G>A (hg19) ; chr1:g.17024009G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.17024009G>A , CM000663.2:g.17024009G>A	GRCh38
NC_000001.10:g.17350504G>A , CM000663.1:g.17350504G>A	GRCh37
NC_000001.9:g.17223091G>A	NCBI36
NG_012340.1:g.35162C>T , LRG_316:g.35162C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000463045.3:c.435C>T	ENSP00000481376.2:p.Asn145=
ENST00000491274.6:c.564C>T	ENSP00000480482.2:p.Asn188=
ENST00000375499.8:c.606C>T MANE Select	ENSP00000364649.3:p.Asn202=
ENST00000375499.7:c.606C>T	ENSP00000364649.3:p.Asn202=
ENST00000485515.5:n.540C>T
ENST00000491274.5:c.564C>T	ENSP00000480482.1:p.Asn188=
NM_003000.2:c.606C>T , LRG_316t1:c.606C>T	NP_002991.2:p.Asn202=
NM_003000.3:c.606C>T MANE Select	NP_002991.2:p.Asn202=