Canonical Allele Identifier: CA400477281

Gene: TBX4

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
NM_001321120.2:c.1595A>C MANE Select	NP_001308049.1:p.Gln532Pro
ENST00000644296.1:c.1595A>C MANE Select	ENSP00000495986.1:p.Gln532Pro
NM_018488.2:c.1592A>C	NP_060958.2:p.Gln531Pro
NM_018488.3:c.1592A>C	NP_060958.2:p.Gln531Pro
ENST00000240335.1:c.1592A>C	ENSP00000240335.1:p.Gln531Pro
ENST00000393853.8:c.1595A>C	ENSP00000377435.3:p.Gln532Pro
ENST00000642491.1:c.1595A>C	ENSP00000495714.1:p.Gln532Pro
XM_005257835.3:c.1595A>C	XP_005257892.2:p.Gln532Pro
XM_005257837.2:c.1595A>C	XP_005257894.1:p.Gln532Pro
XM_011525490.1:c.1784A>C	XP_011523792.1:p.Gln595Pro
XM_011525490.2:c.1784A>C	XP_011523792.1:p.Gln595Pro
XM_011525491.1:c.1781A>C	XP_011523793.1:p.Gln594Pro
XM_011525491.2:c.1781A>C	XP_011523793.1:p.Gln594Pro
XM_011525492.1:c.1595A>C	XP_011523794.1:p.Gln532Pro
XM_011525493.1:c.1595A>C	XP_011523795.1:p.Gln532Pro
XM_011525494.1:c.1595A>C	XP_011523796.1:p.Gln532Pro