Canonical Allele Identifier: CA337914812

Gene: GNB1

Linked Data

• ClinVar Variation Id: 996797
• ClinVar RCV Id: RCV001291588 ; RCV002252357
• dbSNP Id: rs1646670079
• gnomAD v4: 1-1804502-C-T
• MyVariant Identifiers: chr1:g.1735941C>T (hg19) ; chr1:g.1804502C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.1804502C>T , CM000663.2:g.1804502C>T	GRCh38
NC_000001.10:g.1735941C>T , CM000663.1:g.1735941C>T	GRCh37
NC_000001.9:g.1725801C>T	NCBI36
NG_047052.1:g.91616G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000439272.7:c.308G>A	ENSP00000399741.3:p.Gly103Asp
ENST00000615252.5:c.47G>A	ENSP00000483532.1:p.Gly16Asp
ENST00000703692.1:c.347G>A	ENSP00000515427.1:p.Gly116Asp
ENST00000703693.1:c.347G>A	ENSP00000515428.1:p.Gly116Asp
ENST00000703694.1:c.347G>A	ENSP00000515429.1:p.Gly116Asp
ENST00000703695.1:c.347G>A	ENSP00000515430.1:p.Gly116Asp
ENST00000703696.1:c.347G>A	ENSP00000515431.1:p.Gly116Asp
ENST00000703697.1:c.347G>A	ENSP00000515432.1:p.Gly116Asp
ENST00000703699.1:c.347G>A	ENSP00000515433.1:p.Gly116Asp
ENST00000703700.1:c.347G>A	ENSP00000515434.1:p.Gly116Asp
ENST00000703701.1:c.347G>A	ENSP00000515435.1:p.Gly116Asp
ENST00000703702.1:c.347G>A	ENSP00000515436.1:p.Gly116Asp
ENST00000703703.1:c.347G>A	ENSP00000515437.1:p.Gly116Asp
ENST00000703704.1:c.347G>A	ENSP00000515438.1:p.Gly116Asp
ENST00000703705.1:c.215G>A	ENSP00000515439.1:p.Gly72Asp
ENST00000703706.1:c.347G>A	ENSP00000515440.1:p.Gly116Asp
ENST00000703707.1:c.308G>A	ENSP00000515441.1:p.Gly103Asp
ENST00000703708.1:c.347G>A	ENSP00000515442.1:p.Gly116Asp
ENST00000703709.1:c.347G>A	ENSP00000515443.1:p.Gly116Asp
ENST00000703710.1:c.347G>A	ENSP00000515444.1:p.Gly116Asp
ENST00000703711.1:c.347G>A	ENSP00000515445.1:p.Gly116Asp
ENST00000378609.9:c.347G>A MANE Select	ENSP00000367872.3:p.Gly116Asp
ENST00000378609.8:c.347G>A	ENSP00000367872.3:p.Gly116Asp
ENST00000434686.6:c.347G>A	ENSP00000392765.2:p.Gly116Asp
ENST00000439272.6:c.308G>A	ENSP00000399741.2:p.Gly103Asp
ENST00000471354.1:n.951G>A
ENST00000610897.4:c.347G>A	ENSP00000481878.1:p.Gly116Asp
ENST00000615252.4:c.47G>A	ENSP00000483532.1:p.Gly16Asp
NM_001282538.1:c.47G>A	NP_001269467.1:p.Gly16Asp
NM_001282539.1:c.347G>A	NP_001269468.1:p.Gly116Asp
NM_002074.4:c.347G>A	NP_002065.1:p.Gly116Asp
XM_017001059.2:c.347G>A	XP_016856548.1:p.Gly116Asp
XM_017001060.2:c.347G>A	XP_016856549.1:p.Gly116Asp
XM_017001061.2:c.347G>A	XP_016856550.1:p.Gly116Asp
XM_024446495.1:c.347G>A	XP_024302263.1:p.Gly116Asp
NM_002074.5:c.347G>A MANE Select	NP_002065.1:p.Gly116Asp
NM_001282538.2:c.47G>A	NP_001269467.1:p.Gly16Asp
NM_001282539.2:c.347G>A	NP_001269468.1:p.Gly116Asp