Canonical Allele Identifier: CA8689723

Gene: TBX4

Linked Data

• ClinVar Variation Id: 2602701
• ClinVar RCV Id: RCV003373262
• dbSNP Id: rs776660359
• ExAC: 17:59533874 C / T
• gnomAD v2: 17-59533874-C-T
• gnomAD v3: 17-61456513-C-T
• gnomAD v4: 17-61456513-C-T
• MyVariant Identifiers: chr17:g.59533874C>T (hg19) ; chr17:g.61456513C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61456513C>T , CM000679.2:g.61456513C>T	GRCh38
NC_000017.10:g.59533874C>T , CM000679.1:g.59533874C>T	GRCh37
NC_000017.9:g.56888656C>T	NCBI36
NG_008080.1:g.5068C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000642491.1:c.23C>T	ENSP00000495714.1:p.Ser8Phe
ENST00000644296.1:c.23C>T MANE Select	ENSP00000495986.1:p.Ser8Phe
ENST00000240335.1:c.23C>T	ENSP00000240335.1:p.Ser8Phe
ENST00000393853.8:c.23C>T	ENSP00000377435.3:p.Ser8Phe
ENST00000589003.5:c.-125-111C>T	ENSP00000467588.1:n.-125-111C>T
NM_018488.2:c.23C>T	NP_060958.2:p.Ser8Phe
XM_005257835.3:c.23C>T	XP_005257892.2:p.Ser8Phe
XM_005257837.2:c.23C>T	XP_005257894.1:p.Ser8Phe
XM_011525490.1:c.212C>T	XP_011523792.1:p.Ser71Phe
XM_011525491.1:c.212C>T	XP_011523793.1:p.Ser71Phe
XM_011525492.1:c.23C>T	XP_011523794.1:p.Ser8Phe
XM_011525493.1:c.23C>T	XP_011523795.1:p.Ser8Phe
XM_011525494.1:c.23C>T	XP_011523796.1:p.Ser8Phe
XM_011525495.1:c.212C>T	XP_011523797.1:p.Ser71Phe
NM_001321120.2:c.23C>T MANE Select	NP_001308049.1:p.Ser8Phe
NM_018488.3:c.23C>T	NP_060958.2:p.Ser8Phe
XM_011525490.2:c.212C>T	XP_011523792.1:p.Ser71Phe
XM_011525491.2:c.212C>T	XP_011523793.1:p.Ser71Phe
XM_011525495.2:c.212C>T	XP_011523797.1:p.Ser71Phe