Canonical Allele Identifier: CA2712428
Community Standard Title: NM_021629.4(GNB4):c.709A>C (p.Asn237His)
Gene: GNB4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.179405397T>G , CM000665.2:g.179405397T>G GRCh38
NC_000003.11:g.179123185T>G , CM000665.1:g.179123185T>G GRCh37
NC_000003.10:g.180605879T>G NCBI36
NG_033163.1:g.51187A>C

Transcript Alleles

HGVS Amino-acid Change
NM_021629.4:c.709A>C MANE Select NP_067642.1:p.Asn237His
ENST00000232564.8:c.709A>C MANE Select ENSP00000232564.3:p.Asn237His
NM_021629.3:c.709A>C NP_067642.1:p.Asn237His
ENST00000232564.7:c.709A>C ENSP00000232564.3:p.Asn237His
ENST00000466899.5:c.467-4078A>C
ENST00000466899.6:c.700-4078A>C ENSP00000420066.2:n.700-4078A>C
ENST00000468623.5:c.709A>C ENSP00000419693.1:p.Asn237His
ENST00000468623.6:c.670A>C ENSP00000419693.2:p.Asn224His
ENST00000674713.1:c.601A>C ENSP00000502144.1:p.Asn201His
ENST00000674862.1:c.709A>C ENSP00000502628.1:p.Asn237His
ENST00000674927.1:c.709A>C ENSP00000501774.1:p.Asn237His
ENST00000675901.1:c.709A>C ENSP00000501992.1:p.Asn237His
ENST00000676128.1:c.709A>C ENSP00000501882.1:p.Asn237His
XM_005247692.1:c.709A>C XP_005247749.1:p.Asn237His
XM_005247692.2:c.709A>C XP_005247749.1:p.Asn237His
XM_006713721.1:c.709A>C XP_006713784.1:p.Asn237His
XM_006713721.2:c.709A>C XP_006713784.1:p.Asn237His