Canonical Allele Identifier: CA400469156

Gene: TBX4

Linked Data

• ClinVar Variation Id: 1341462
• ClinVar RCV Id: RCV001829376
• dbSNP Id: rs2143792797
• gnomAD v4: 17-61456657-C-T
• MyVariant Identifiers: chr17:g.59534018C>T (hg19) ; chr17:g.61456657C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61456657C>T , CM000679.2:g.61456657C>T	GRCh38
NC_000017.10:g.59534018C>T , CM000679.1:g.59534018C>T	GRCh37
NC_000017.9:g.56888800C>T	NCBI36
NG_008080.1:g.5212C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642491.1:c.167C>T	ENSP00000495714.1:p.Ala56Val
ENST00000644296.1:c.167C>T MANE Select	ENSP00000495986.1:p.Ala56Val
ENST00000240335.1:c.167C>T	ENSP00000240335.1:p.Ala56Val
ENST00000393853.8:c.167C>T	ENSP00000377435.3:p.Ala56Val
ENST00000589003.5:c.-92C>T	ENSP00000467588.1:n.-92C>T
NM_018488.2:c.167C>T	NP_060958.2:p.Ala56Val
XM_005257835.3:c.167C>T	XP_005257892.2:p.Ala56Val
XM_005257837.2:c.167C>T	XP_005257894.1:p.Ala56Val
XM_011525490.1:c.356C>T	XP_011523792.1:p.Ala119Val
XM_011525491.1:c.356C>T	XP_011523793.1:p.Ala119Val
XM_011525492.1:c.167C>T	XP_011523794.1:p.Ala56Val
XM_011525493.1:c.167C>T	XP_011523795.1:p.Ala56Val
XM_011525494.1:c.167C>T	XP_011523796.1:p.Ala56Val
XM_011525495.1:c.356C>T	XP_011523797.1:p.Ala119Val
NM_001321120.2:c.167C>T MANE Select	NP_001308049.1:p.Ala56Val
NM_018488.3:c.167C>T	NP_060958.2:p.Ala56Val
XM_011525490.2:c.356C>T	XP_011523792.1:p.Ala119Val
XM_011525491.2:c.356C>T	XP_011523793.1:p.Ala119Val
XM_011525495.2:c.356C>T	XP_011523797.1:p.Ala119Val