Canonical Allele Identifier: CA627146402

Gene: TBX4

Linked Data

• dbSNP Id: rs1369327704
• gnomAD v2: 17-59534051-A-G
• gnomAD v4: 17-61456690-A-G
• MyVariant Identifiers: chr17:g.59534051A>G (hg19) ; chr17:g.61456690A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61456690A>G , CM000679.2:g.61456690A>G	GRCh38
NC_000017.10:g.59534051A>G , CM000679.1:g.59534051A>G	GRCh37
NC_000017.9:g.56888833A>G	NCBI36
NG_008080.1:g.5245A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000642491.1:c.186+14A>G	ENSP00000495714.1:n.186+14A>G
ENST00000644296.1:c.186+14A>G MANE Select	ENSP00000495986.1:n.186+14A>G
ENST00000240335.1:c.186+14A>G	ENSP00000240335.1:n.186+14A>G
ENST00000393853.8:c.186+14A>G	ENSP00000377435.3:n.186+14A>G
ENST00000589003.5:c.-73+14A>G	ENSP00000467588.1:n.-73+14A>G
NM_018488.2:c.186+14A>G	NP_060958.2:n.186+14A>G
XM_005257835.3:c.186+14A>G	XP_005257892.2:n.186+14A>G
XM_005257837.2:c.186+14A>G	XP_005257894.1:n.186+14A>G
XM_011525490.1:c.375+14A>G	XP_011523792.1:n.375+14A>G
XM_011525491.1:c.375+14A>G	XP_011523793.1:n.375+14A>G
XM_011525492.1:c.186+14A>G	XP_011523794.1:n.186+14A>G
XM_011525493.1:c.186+14A>G	XP_011523795.1:n.186+14A>G
XM_011525494.1:c.186+14A>G	XP_011523796.1:n.186+14A>G
XM_011525495.1:c.375+14A>G	XP_011523797.1:n.375+14A>G
NM_001321120.2:c.186+14A>G MANE Select	NP_001308049.1:n.186+14A>G
NM_018488.3:c.186+14A>G	NP_060958.2:n.186+14A>G
XM_011525490.2:c.375+14A>G	XP_011523792.1:n.375+14A>G
XM_011525491.2:c.375+14A>G	XP_011523793.1:n.375+14A>G
XM_011525495.2:c.375+14A>G	XP_011523797.1:n.375+14A>G