Canonical Allele Identifier: CA340707
Gene: TBX4 HGNC NCBI

Linked Data

ClinVar Variation Id: 7855
ClinVar RCV Id: RCV000008305
dbSNP Id: rs28938474
MyVariant Identifiers: chr17:g.59557282G>T (hg19) chr17:g.61479921G>T (hg38)
PubMed: PMID:11303519 PMID:15106123
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.61479921G>T , CM000679.2:g.61479921G>T GRCh38
NC_000017.10:g.59557282G>T , CM000679.1:g.59557282G>T GRCh37
NC_000017.9:g.56912064G>T NCBI36
NG_008080.1:g.28476G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000642491.1:c.743G>T ENSP00000495714.1:p.Gly248Val
ENST00000644296.1:c.743G>T MANE Select ENSP00000495986.1:p.Gly248Val
ENST00000240335.1:c.743G>T ENSP00000240335.1:p.Gly248Val
ENST00000393853.8:c.743G>T ENSP00000377435.3:p.Gly248Val
ENST00000586874.2:n.246G>T
ENST00000589449.5:n.273G>T
ENST00000590174.5:n.488G>T
NM_018488.2:c.743G>T NP_060958.2:p.Gly248Val
XM_005257835.3:c.743G>T XP_005257892.2:p.Gly248Val
XM_005257837.2:c.743G>T XP_005257894.1:p.Gly248Val
XM_011525490.1:c.932G>T XP_011523792.1:p.Gly311Val
XM_011525491.1:c.932G>T XP_011523793.1:p.Gly311Val
XM_011525492.1:c.743G>T XP_011523794.1:p.Gly248Val
XM_011525493.1:c.743G>T XP_011523795.1:p.Gly248Val
XM_011525494.1:c.743G>T XP_011523796.1:p.Gly248Val
XM_011525495.1:c.932G>T XP_011523797.1:p.Gly311Val
NM_001321120.2:c.743G>T MANE Select NP_001308049.1:p.Gly248Val
NM_018488.3:c.743G>T NP_060958.2:p.Gly248Val
XM_011525490.2:c.932G>T XP_011523792.1:p.Gly311Val
XM_011525491.2:c.932G>T XP_011523793.1:p.Gly311Val
XM_011525495.2:c.932G>T XP_011523797.1:p.Gly311Val
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