Canonical Allele Identifier: CA2739271842

Gene: GNB3

Linked Data

• ClinVar Variation Id: 2825247
• ClinVar RCV Id: RCV003691347

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6843013_6843014insCACGGC , CM000674.2:g.6843013_6843014insCACGGC	GRCh38
NC_000012.11:g.6952177_6952178insCACGGC , CM000674.1:g.6952177_6952178insCACGGC	GRCh37
NC_000012.10:g.6822438_6822439insCACGGC	NCBI36
NG_009100.1:g.7803_7804insCACGGC
NG_009100.2:g.7803_7804insCACGGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000229264.8:c.140_141insCACGGC MANE Select	ENSP00000229264.3:p.Thr47_Arg48insThrAla
ENST00000229264.7:c.140_141insCACGGC	ENSP00000229264.3:p.Thr47_Arg48insThrAla
ENST00000435982.6:c.140_141insCACGGC	ENSP00000414734.2:p.Thr47_Arg48insThrAla
ENST00000537035.1:c.140_141insCACGGC	ENSP00000445967.1:p.Thr47_Arg48insThrAla
ENST00000539127.5:c.*160_*161insCACGGC	ENSP00000444325.1:n.*160_*161insCACGGC
ENST00000540458.5:n.1491_1492insCACGGC
ENST00000541257.5:c.140_141insCACGGC	ENSP00000442002.1:p.Thr47_Arg48insThrAla
ENST00000541978.5:c.140_141insCACGGC	ENSP00000439753.2:p.Thr47_Arg48insThrAla
NM_001297571.1:c.140_141insCACGGC	NP_001284500.1:p.Thr47_Arg48insThrAla
NM_002075.3:c.140_141insCACGGC	NP_002066.1:p.Thr47_Arg48insThrAla
XM_011520953.1:c.140_141insCACGGC	XP_011519255.1:p.Thr47_Arg48insThrAla
XM_011520954.1:c.140_141insCACGGC	XP_011519256.1:p.Thr47_Arg48insThrAla
XM_011520953.3:c.140_141insCACGGC	XP_011519255.1:p.Thr47_Arg48insThrAla
NM_001297571.2:c.140_141insCACGGC	NP_001284500.1:p.Thr47_Arg48insThrAla
NM_002075.4:c.140_141insCACGGC MANE Select	NP_002066.1:p.Thr47_Arg48insThrAla