Canonical Allele Identifier: CA338228081

Gene: SDHB

Linked Data

• dbSNP Id: rs1163621416
• gnomAD v2: 1-17371316-C-T
• gnomAD v4: 1-17044821-C-T
• MyVariant Identifiers: chr1:g.17371316C>T (hg19) ; chr1:g.17044821C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.17044821C>T , CM000663.2:g.17044821C>T	GRCh38
NC_000001.10:g.17371316C>T , CM000663.1:g.17371316C>T	GRCh37
NC_000001.9:g.17243903C>T	NCBI36
NG_012340.1:g.14350G>A , LRG_316:g.14350G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000463045.3:c.-32G>A	ENSP00000481376.2:n.-32G>A
ENST00000491274.6:c.98G>A	ENSP00000480482.2:p.Trp33Ter
ENST00000375499.8:c.140G>A MANE Select	ENSP00000364649.3:p.Trp47Ter
ENST00000375499.7:c.140G>A	ENSP00000364649.3:p.Trp47Ter
ENST00000463045.2:c.-32G>A	ENSP00000481376.1:n.-32G>A
ENST00000466613.2:n.152G>A
ENST00000475506.1:n.57G>A
ENST00000485515.5:n.128G>A
ENST00000491274.5:c.98G>A	ENSP00000480482.1:p.Trp33Ter
NM_003000.2:c.140G>A , LRG_316t1:c.140G>A	NP_002991.2:p.Trp47Ter
NM_003000.3:c.140G>A MANE Select	NP_002991.2:p.Trp47Ter