Canonical Allele Identifier: CA148540

Gene: IDH3B

Linked Data

• ClinVar Variation Id: 95442
• ClinVar RCV Id: RCV000081467 ; RCV000395761 ; RCV000970913 ; RCV003935056
• dbSNP Id: rs191680997
• ExAC: 20:2644565 G / T
• gnomAD v2: 20-2644565-G-T
• gnomAD v3: 20-2663919-G-T
• gnomAD v4: 20-2663919-G-T
• MyVariant Identifiers: chr20:g.2644565G>T (hg19) ; chr20:g.2663919G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.2663919G>T , CM000682.2:g.2663919G>T	GRCh38
NC_000020.10:g.2644565G>T , CM000682.1:g.2644565G>T	GRCh37
NC_000020.9:g.2592565G>T	NCBI36
NG_012149.1:g.5279C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380843.9:c.117+6C>A MANE Select	ENSP00000370223.4:n.117+6C>A
ENST00000380843.8:c.117+6C>A	ENSP00000370223.4:n.117+6C>A
ENST00000380851.9:c.117+6C>A	ENSP00000370232.5:n.117+6C>A
ENST00000462967.5:n.144+6C>A
ENST00000474315.5:c.117+6C>A	ENSP00000482773.1:n.117+6C>A
ENST00000488299.5:n.117+6C>A
ENST00000491065.1:n.138+6C>A
ENST00000613370.1:c.117+6C>A	ENSP00000484922.1:n.117+6C>A
NM_001258384.1:c.117+6C>A	NP_001245313.1:n.117+6C>A
NM_006899.3:c.117+6C>A	NP_008830.2:n.117+6C>A
NM_174855.2:c.117+6C>A	NP_777280.1:n.117+6C>A
XM_005260716.1:c.117+6C>A	XP_005260773.1:n.117+6C>A
XR_937066.1:n.145+6C>A
NM_001258384.2:c.117+6C>A	NP_001245313.1:n.117+6C>A
NM_001330763.1:c.117+6C>A	NP_001317692.1:n.117+6C>A
NM_006899.4:c.117+6C>A	NP_008830.2:n.117+6C>A
NM_174855.3:c.117+6C>A	NP_777280.1:n.117+6C>A
NR_136344.1:n.152+6C>A
XR_001754265.1:n.145+6C>A
XR_001754266.1:n.145+6C>A
XR_001754267.1:n.145+6C>A
NM_006899.5:c.117+6C>A MANE Select	NP_008830.2:n.117+6C>A
NM_001330763.2:c.117+6C>A	NP_001317692.1:n.117+6C>A
NM_174855.4:c.117+6C>A	NP_777280.1:n.117+6C>A
NR_136344.2:n.145+6C>A
NM_001258384.3:c.117+6C>A	NP_001245313.1:n.117+6C>A