Canonical Allele Identifier: CA292260397

Gene: TBX4

Linked Data

• dbSNP Id: rs1031684649
• gnomAD v2: 17-59533660-T-C
• gnomAD v3: 17-61456299-T-C
• gnomAD v4: 17-61456299-T-C
• MyVariant Identifiers: chr17:g.59533660T>C (hg19) ; chr17:g.61456299T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61456299T>C , CM000679.2:g.61456299T>C	GRCh38
NC_000017.10:g.59533660T>C , CM000679.1:g.59533660T>C	GRCh37
NC_000017.9:g.56888442T>C	NCBI36
NG_008080.1:g.4854T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644296.1:c.-3-189T>C MANE Select	ENSP00000495986.1:n.-3-189T>C
ENST00000393853.8:c.-3-189T>C	ENSP00000377435.3:n.-3-189T>C
ENST00000589003.5:c.-125-325T>C	ENSP00000467588.1:n.-125-325T>C
XM_005257835.3:c.-3-189T>C	XP_005257892.2:n.-3-189T>C
XM_005257837.2:c.-3-189T>C	XP_005257894.1:n.-3-189T>C
XM_011525490.1:c.187-189T>C	XP_011523792.1:n.187-189T>C
XM_011525491.1:c.187-189T>C	XP_011523793.1:n.187-189T>C
XM_011525492.1:c.-3-189T>C	XP_011523794.1:n.-3-189T>C
XM_011525493.1:c.-3-189T>C	XP_011523795.1:n.-3-189T>C
XM_011525494.1:c.-3-189T>C	XP_011523796.1:n.-3-189T>C
XM_011525495.1:c.187-189T>C	XP_011523797.1:n.187-189T>C
NM_001321120.2:c.-3-189T>C MANE Select	NP_001308049.1:n.-3-189T>C
XM_011525490.2:c.187-189T>C	XP_011523792.1:n.187-189T>C
XM_011525491.2:c.187-189T>C	XP_011523793.1:n.187-189T>C
XM_011525495.2:c.187-189T>C	XP_011523797.1:n.187-189T>C