Canonical Allele Identifier: CA400469223

Gene: TBX4

Linked Data

• gnomAD v4: 17-61456675-A-T
• MyVariant Identifiers: chr17:g.59534036A>T (hg19) ; chr17:g.61456675A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61456675A>T , CM000679.2:g.61456675A>T	GRCh38
NC_000017.10:g.59534036A>T , CM000679.1:g.59534036A>T	GRCh37
NC_000017.9:g.56888818A>T	NCBI36
NG_008080.1:g.5230A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000642491.1:c.185A>T	ENSP00000495714.1:p.Gln62Leu
ENST00000644296.1:c.185A>T MANE Select	ENSP00000495986.1:p.Gln62Leu
ENST00000240335.1:c.185A>T	ENSP00000240335.1:p.Gln62Leu
ENST00000393853.8:c.185A>T	ENSP00000377435.3:p.Gln62Leu
ENST00000589003.5:c.-74A>T	ENSP00000467588.1:n.-74A>T
NM_018488.2:c.185A>T	NP_060958.2:p.Gln62Leu
XM_005257835.3:c.185A>T	XP_005257892.2:p.Gln62Leu
XM_005257837.2:c.185A>T	XP_005257894.1:p.Gln62Leu
XM_011525490.1:c.374A>T	XP_011523792.1:p.Gln125Leu
XM_011525491.1:c.374A>T	XP_011523793.1:p.Gln125Leu
XM_011525492.1:c.185A>T	XP_011523794.1:p.Gln62Leu
XM_011525493.1:c.185A>T	XP_011523795.1:p.Gln62Leu
XM_011525494.1:c.185A>T	XP_011523796.1:p.Gln62Leu
XM_011525495.1:c.374A>T	XP_011523797.1:p.Gln125Leu
NM_001321120.2:c.185A>T MANE Select	NP_001308049.1:p.Gln62Leu
NM_018488.3:c.185A>T	NP_060958.2:p.Gln62Leu
XM_011525490.2:c.374A>T	XP_011523792.1:p.Gln125Leu
XM_011525491.2:c.374A>T	XP_011523793.1:p.Gln125Leu
XM_011525495.2:c.374A>T	XP_011523797.1:p.Gln125Leu