Canonical Allele Identifier: CA9735039

Gene: IDH3B

Linked Data

• ClinVar Variation Id: 338011
• ClinVar RCV Id: RCV000347016 ; RCV001423796
• dbSNP Id: rs376112899
• ExAC: 20:2639423 C / T
• gnomAD v2: 20-2639423-C-T
• gnomAD v3: 20-2658777-C-T
• gnomAD v4: 20-2658777-C-T
• MyVariant Identifiers: chr20:g.2639423C>T (hg19) ; chr20:g.2658777C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.2658777C>T , CM000682.2:g.2658777C>T	GRCh38
NC_000020.10:g.2639423C>T , CM000682.1:g.2639423C>T	GRCh37
NC_000020.9:g.2587423C>T	NCBI36
NG_012149.1:g.10421G>A
NG_032136.1:g.11246C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380843.9:c.1132G>A MANE Select	ENSP00000370223.4:p.Gly378Ser
ENST00000380843.8:c.1132G>A	ENSP00000370223.4:p.Gly378Ser
ENST00000380851.9:c.1072-255G>A	ENSP00000370232.5:n.1072-255G>A
ENST00000466494.6:c.410G>A
ENST00000474315.5:c.1132G>A	ENSP00000482773.1:p.Gly378Ser
ENST00000477689.2:c.373G>A
ENST00000488299.5:n.1238G>A
ENST00000492240.5:n.697G>A
NM_006899.3:c.1132G>A	NP_008830.2:p.Gly378Ser
NM_174855.2:c.1072-255G>A	NP_777280.1:n.1072-255G>A
XM_005260716.1:c.1132G>A	XP_005260773.1:p.Gly378Ser
XR_937066.1:n.1160G>A
NM_001330763.1:c.1132G>A	NP_001317692.1:p.Gly378Ser
NM_006899.4:c.1132G>A	NP_008830.2:p.Gly378Ser
NM_174855.3:c.1072-255G>A	NP_777280.1:n.1072-255G>A
NR_136344.1:n.1167G>A
XR_001754265.1:n.1122G>A
XR_001754266.1:n.1122G>A
XR_001754267.1:n.1062-255G>A
NM_006899.5:c.1132G>A MANE Select	NP_008830.2:p.Gly378Ser
NM_001330763.2:c.1132G>A	NP_001317692.1:p.Gly378Ser
NM_174855.4:c.1072-255G>A	NP_777280.1:n.1072-255G>A
NR_136344.2:n.1160G>A