Canonical Allele Identifier: CA391462259

Gene: GABRB3

Linked Data

• ClinVar Variation Id: 2419058
• ClinVar RCV Id: RCV003112302 ; RCV003229117
• dbSNP Id: rs1085308023
• gnomAD v3: 15-26561131-C-T
• gnomAD v4: 15-26561131-C-T
• COSMIC: COSM960018 ; COSM1587804 ; COSM1587805
• MyVariant Identifiers: chr15:g.26806278C>T (hg19) ; chr15:g.26561131C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.26561131C>T , CM000677.2:g.26561131C>T	GRCh38
NC_000015.9:g.26806278C>T , CM000677.1:g.26806278C>T	GRCh37
NC_000015.8:g.24357371C>T	NCBI36
NG_012836.1:g.217650G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000299267.9:c.881G>A	ENSP00000299267.4:p.Arg294Gln
ENST00000311550.10:c.881G>A MANE Select	ENSP00000308725.5:p.Arg294Gln
ENST00000635832.1:n.924G>A
ENST00000635994.1:c.564G>A
ENST00000636466.1:c.626G>A	ENSP00000489768.1:p.Arg209Gln
ENST00000638099.1:c.782G>A	ENSP00000490678.1:p.Arg261Gln
ENST00000299267.8:c.881G>A	ENSP00000299267.4:p.Arg294Gln
ENST00000311550.9:c.881G>A	ENSP00000308725.5:p.Arg294Gln
ENST00000400188.7:c.668G>A	ENSP00000383049.3:p.Arg223Gln
ENST00000541819.6:c.1049G>A	ENSP00000442408.2:p.Arg350Gln
ENST00000545868.4:c.626G>A	ENSP00000439169.1:p.Arg209Gln
ENST00000554556.5:c.*342G>A	ENSP00000451077.1:n.*342G>A
ENST00000555094.5:n.793G>A
ENST00000555632.5:c.*713G>A	ENSP00000452041.1:n.*713G>A
ENST00000557765.1:n.552G>A
ENST00000622697.4:c.626G>A	ENSP00000481004.1:p.Arg209Gln
ENST00000628124.2:c.626G>A	ENSP00000486819.1:p.Arg209Gln
NM_000814.5:c.881G>A	NP_000805.1:p.Arg294Gln
NM_001191320.1:c.626G>A	NP_001178249.1:p.Arg209Gln
NM_001191321.2:c.668G>A	NP_001178250.1:p.Arg223Gln
NM_001278631.1:c.626G>A	NP_001265560.1:p.Arg209Gln
NM_021912.4:c.881G>A	NP_068712.1:p.Arg294Gln
XM_011521428.1:c.704G>A	XP_011519730.1:p.Arg235Gln
XM_011521428.3:c.704G>A	XP_011519730.1:p.Arg235Gln
NM_000814.6:c.881G>A MANE Select	NP_000805.1:p.Arg294Gln
NM_001191321.3:c.668G>A	NP_001178250.1:p.Arg223Gln
NM_021912.5:c.881G>A	NP_068712.1:p.Arg294Gln
NM_001191320.2:c.626G>A	NP_001178249.1:p.Arg209Gln
NM_001278631.2:c.626G>A	NP_001265560.1:p.Arg209Gln