Canonical Allele Identifier: CA292260548

Gene: TBX4

Linked Data

• dbSNP Id: rs971863326
• gnomAD v2: 17-59533937-C-T
• gnomAD v3: 17-61456576-C-T
• gnomAD v4: 17-61456576-C-T
• MyVariant Identifiers: chr17:g.59533937C>T (hg19) ; chr17:g.61456576C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61456576C>T , CM000679.2:g.61456576C>T	GRCh38
NC_000017.10:g.59533937C>T , CM000679.1:g.59533937C>T	GRCh37
NC_000017.9:g.56888719C>T	NCBI36
NG_008080.1:g.5131C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000642491.1:c.86C>T	ENSP00000495714.1:p.Ala29Val
ENST00000644296.1:c.86C>T MANE Select	ENSP00000495986.1:p.Ala29Val
ENST00000240335.1:c.86C>T	ENSP00000240335.1:p.Ala29Val
ENST00000393853.8:c.86C>T	ENSP00000377435.3:p.Ala29Val
ENST00000589003.5:c.-125-48C>T	ENSP00000467588.1:n.-125-48C>T
NM_018488.2:c.86C>T	NP_060958.2:p.Ala29Val
XM_005257835.3:c.86C>T	XP_005257892.2:p.Ala29Val
XM_005257837.2:c.86C>T	XP_005257894.1:p.Ala29Val
XM_011525490.1:c.275C>T	XP_011523792.1:p.Ala92Val
XM_011525491.1:c.275C>T	XP_011523793.1:p.Ala92Val
XM_011525492.1:c.86C>T	XP_011523794.1:p.Ala29Val
XM_011525493.1:c.86C>T	XP_011523795.1:p.Ala29Val
XM_011525494.1:c.86C>T	XP_011523796.1:p.Ala29Val
XM_011525495.1:c.275C>T	XP_011523797.1:p.Ala92Val
NM_001321120.2:c.86C>T MANE Select	NP_001308049.1:p.Ala29Val
NM_018488.3:c.86C>T	NP_060958.2:p.Ala29Val
XM_011525490.2:c.275C>T	XP_011523792.1:p.Ala92Val
XM_011525491.2:c.275C>T	XP_011523793.1:p.Ala92Val
XM_011525495.2:c.275C>T	XP_011523797.1:p.Ala92Val