Canonical Allele Identifier: CA501138853

Gene: TBX4

Linked Data

• dbSNP Id: rs1456712092
• gnomAD v2: 17-59533962-G-C
• gnomAD v3: 17-61456601-G-C
• gnomAD v4: 17-61456601-G-C
• MyVariant Identifiers: chr17:g.59533962G>C (hg19) ; chr17:g.61456601G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61456601G>C , CM000679.2:g.61456601G>C	GRCh38
NC_000017.10:g.59533962G>C , CM000679.1:g.59533962G>C	GRCh37
NC_000017.9:g.56888744G>C	NCBI36
NG_008080.1:g.5156G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642491.1:c.111G>C	ENSP00000495714.1:p.Pro37=
ENST00000644296.1:c.111G>C MANE Select	ENSP00000495986.1:p.Pro37=
ENST00000240335.1:c.111G>C	ENSP00000240335.1:p.Pro37=
ENST00000393853.8:c.111G>C	ENSP00000377435.3:p.Pro37=
ENST00000589003.5:c.-125-23G>C	ENSP00000467588.1:n.-125-23G>C
NM_018488.2:c.111G>C	NP_060958.2:p.Pro37=
XM_005257835.3:c.111G>C	XP_005257892.2:p.Pro37=
XM_005257837.2:c.111G>C	XP_005257894.1:p.Pro37=
XM_011525490.1:c.300G>C	XP_011523792.1:p.Pro100=
XM_011525491.1:c.300G>C	XP_011523793.1:p.Pro100=
XM_011525492.1:c.111G>C	XP_011523794.1:p.Pro37=
XM_011525493.1:c.111G>C	XP_011523795.1:p.Pro37=
XM_011525494.1:c.111G>C	XP_011523796.1:p.Pro37=
XM_011525495.1:c.300G>C	XP_011523797.1:p.Pro100=
NM_001321120.2:c.111G>C MANE Select	NP_001308049.1:p.Pro37=
NM_018488.3:c.111G>C	NP_060958.2:p.Pro37=
XM_011525490.2:c.300G>C	XP_011523792.1:p.Pro100=
XM_011525491.2:c.300G>C	XP_011523793.1:p.Pro100=
XM_011525495.2:c.300G>C	XP_011523797.1:p.Pro100=