Canonical Allele Identifier: CA340710
Gene: TBX4 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 7857
ClinVar RCV Id: RCV000008307
dbSNP Id: rs28936696

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.61483470A>G , CM000679.2:g.61483470A>G GRCh38
NC_000017.10:g.59560831A>G , CM000679.1:g.59560831A>G GRCh37
NC_000017.9:g.56915613A>G NCBI36
NG_008080.1:g.32025A>G

Transcript Alleles

HGVS Amino-acid change
NM_018488.2:c.1592A>G VV NP_060958.2:p.Gln531Arg
XM_005257835.3:c.1595A>G XP_005257892.2:p.Gln532Arg
XM_005257837.2:c.1595A>G XP_005257894.1:p.Gln532Arg
XM_011525490.1:c.1784A>G XP_011523792.1:p.Gln595Arg
XM_011525491.1:c.1781A>G XP_011523793.1:p.Gln594Arg
XM_011525492.1:c.1595A>G XP_011523794.1:p.Gln532Arg
XM_011525493.1:c.1595A>G XP_011523795.1:p.Gln532Arg
XM_011525494.1:c.1595A>G XP_011523796.1:p.Gln532Arg
NM_001321120.2:c.1595A>G VV NP_001308049.1:p.Gln532Arg
NM_018488.3:c.1592A>G VV NP_060958.2:p.Gln531Arg
XM_011525490.2:c.1784A>G XP_011523792.1:p.Gln595Arg
XM_011525491.2:c.1781A>G XP_011523793.1:p.Gln594Arg
ENST00000240335.1:c.1592A>G ENSP00000240335.1:p.Gln531Arg
ENST00000393853.8:c.1595A>G ENSP00000377435.3:p.Gln532Arg