Canonical Allele Identifier: CA8689720

Gene: TBX4

Linked Data

• ClinVar Variation Id: 324240
• ClinVar RCV Id: RCV000285413 ; RCV000969924 ; RCV004549713
• dbSNP Id: rs117410176
• ExAC: 17:59533867 G / A
• gnomAD v2: 17-59533867-G-A
• gnomAD v3: 17-61456506-G-A
• gnomAD v4: 17-61456506-G-A
• MyVariant Identifiers: chr17:g.59533867G>A (hg19) ; chr17:g.61456506G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61456506G>A , CM000679.2:g.61456506G>A	GRCh38
NC_000017.10:g.59533867G>A , CM000679.1:g.59533867G>A	GRCh37
NC_000017.9:g.56888649G>A	NCBI36
NG_008080.1:g.5061G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642491.1:c.16G>A	ENSP00000495714.1:p.Gly6Ser
ENST00000644296.1:c.16G>A MANE Select	ENSP00000495986.1:p.Gly6Ser
ENST00000240335.1:c.16G>A	ENSP00000240335.1:p.Gly6Ser
ENST00000393853.8:c.16G>A	ENSP00000377435.3:p.Gly6Ser
ENST00000589003.5:c.-125-118G>A	ENSP00000467588.1:n.-125-118G>A
NM_018488.2:c.16G>A	NP_060958.2:p.Gly6Ser
XM_005257835.3:c.16G>A	XP_005257892.2:p.Gly6Ser
XM_005257837.2:c.16G>A	XP_005257894.1:p.Gly6Ser
XM_011525490.1:c.205G>A	XP_011523792.1:p.Gly69Ser
XM_011525491.1:c.205G>A	XP_011523793.1:p.Gly69Ser
XM_011525492.1:c.16G>A	XP_011523794.1:p.Gly6Ser
XM_011525493.1:c.16G>A	XP_011523795.1:p.Gly6Ser
XM_011525494.1:c.16G>A	XP_011523796.1:p.Gly6Ser
XM_011525495.1:c.205G>A	XP_011523797.1:p.Gly69Ser
NM_001321120.2:c.16G>A MANE Select	NP_001308049.1:p.Gly6Ser
NM_018488.3:c.16G>A	NP_060958.2:p.Gly6Ser
XM_011525490.2:c.205G>A	XP_011523792.1:p.Gly69Ser
XM_011525491.2:c.205G>A	XP_011523793.1:p.Gly69Ser
XM_011525495.2:c.205G>A	XP_011523797.1:p.Gly69Ser