Canonical Allele Identifier: CA2712458
Community Standard Title: NM_021629.4(GNB4):c.598G>A (p.Val200Ile)
Gene: GNB4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.179413513C>T , CM000665.2:g.179413513C>T GRCh38
NC_000003.11:g.179131301C>T , CM000665.1:g.179131301C>T GRCh37
NC_000003.10:g.180613995C>T NCBI36
NG_033163.1:g.43071G>A

Transcript Alleles

HGVS Amino-acid Change
NM_021629.4:c.598G>A MANE Select NP_067642.1:p.Val200Ile
ENST00000232564.8:c.598G>A MANE Select ENSP00000232564.3:p.Val200Ile
NM_021629.3:c.598G>A NP_067642.1:p.Val200Ile
ENST00000232564.7:c.598G>A ENSP00000232564.3:p.Val200Ile
ENST00000465153.1:n.117G>A
ENST00000465153.2:c.598G>A ENSP00000502010.1:p.Val200Ile
ENST00000466899.5:c.365G>A
ENST00000466899.6:c.598G>A ENSP00000420066.2:p.Val200Ile
ENST00000468623.5:c.598G>A ENSP00000419693.1:p.Val200Ile
ENST00000468623.6:c.559G>A ENSP00000419693.2:p.Val187Ile
ENST00000674713.1:c.490G>A ENSP00000502144.1:p.Val164Ile
ENST00000674862.1:c.598G>A ENSP00000502628.1:p.Val200Ile
ENST00000674927.1:c.598G>A ENSP00000501774.1:p.Val200Ile
ENST00000675901.1:c.598G>A ENSP00000501992.1:p.Val200Ile
ENST00000676128.1:c.598G>A ENSP00000501882.1:p.Val200Ile
XM_005247692.1:c.598G>A XP_005247749.1:p.Val200Ile
XM_005247692.2:c.598G>A XP_005247749.1:p.Val200Ile
XM_006713721.1:c.598G>A XP_006713784.1:p.Val200Ile
XM_006713721.2:c.598G>A XP_006713784.1:p.Val200Ile
XM_011513061.1:c.598G>A XP_011511363.1:p.Val200Ile