Canonical Allele Identifier: CA2269043702
Community Standard Title: NM_001321120.2(TBX4):c.1595A= (p.Gln532=)
Gene: TBX4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.61483470A= , CM000679.2:g.61483470A= GRCh38
NC_000017.10:g.59560831A= , CM000679.1:g.59560831A= GRCh37
NC_000017.9:g.56915613A= NCBI36
NG_008080.1:g.32025A=

Transcript Alleles

HGVS Amino-acid Change
NM_001321120.2:c.1595A= MANE Select NP_001308049.1:p.Gln532=
ENST00000644296.1:c.1595A= MANE Select ENSP00000495986.1:p.Gln532=
NM_018488.2:c.1592A= NP_060958.2:p.Gln531=
NM_018488.3:c.1592A= NP_060958.2:p.Gln531=
ENST00000240335.1:c.1592A= ENSP00000240335.1:p.Gln531=
ENST00000393853.8:c.1595A= ENSP00000377435.3:p.Gln532=
ENST00000642491.1:c.1595A= ENSP00000495714.1:p.Gln532=
XM_005257835.3:c.1595A= XP_005257892.2:p.Gln532=
XM_005257837.2:c.1595A= XP_005257894.1:p.Gln532=
XM_011525490.1:c.1784A= XP_011523792.1:p.Gln595=
XM_011525490.2:c.1784A= XP_011523792.1:p.Gln595=
XM_011525491.1:c.1781A= XP_011523793.1:p.Gln594=
XM_011525491.2:c.1781A= XP_011523793.1:p.Gln594=
XM_011525492.1:c.1595A= XP_011523794.1:p.Gln532=
XM_011525493.1:c.1595A= XP_011523795.1:p.Gln532=
XM_011525494.1:c.1595A= XP_011523796.1:p.Gln532=