Canonical Allele Identifier: CA400469236

Gene: TBX4

Linked Data

• gnomAD v4: 17-61456678-T-C
• MyVariant Identifiers: chr17:g.59534039T>C (hg19) ; chr17:g.61456678T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61456678T>C , CM000679.2:g.61456678T>C	GRCh38
NC_000017.10:g.59534039T>C , CM000679.1:g.59534039T>C	GRCh37
NC_000017.9:g.56888821T>C	NCBI36
NG_008080.1:g.5233T>C

Transcript Alleles

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