Canonical Allele Identifier: CA244127783

Gene: TBX5

Linked Data

• ClinVar Variation Id: 2895839
• ClinVar RCV Id: RCV003648846 ; RCV004374112
• dbSNP Id: rs972633602
• gnomAD v4: 12-114398591-G-C
• MyVariant Identifiers: chr12:g.114836396G>C (hg19) ; chr12:g.114398591G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.114398591G>C , CM000674.2:g.114398591G>C	GRCh38
NC_000012.11:g.114836396G>C , CM000674.1:g.114836396G>C	GRCh37
NC_000012.10:g.113320779G>C	NCBI36
NG_007373.1:g.14852C>G , LRG_670:g.14852C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405440.7:c.492C>G MANE Select	ENSP00000384152.3:p.His164Gln
ENST00000310346.8:c.492C>G	ENSP00000309913.4:p.His164Gln
ENST00000349716.9:c.342C>G	ENSP00000337723.5:p.His114Gln
ENST00000405440.6:c.492C>G	ENSP00000384152.2:p.His164Gln
ENST00000526441.1:c.492C>G	ENSP00000433292.1:p.His164Gln
ENST00000552726.1:n.543C>G
NM_000192.3:c.492C>G , LRG_670t1:c.492C>G	NP_000183.2:p.His164Gln
NM_080717.2:c.342C>G	NP_542448.1:p.His114Gln
NM_181486.2:c.492C>G	NP_852259.1:p.His164Gln
XM_017019912.1:c.540C>G	XP_016875401.1:p.His180Gln
NM_080717.3:c.342C>G	NP_542448.1:p.His114Gln
NM_181486.4:c.492C>G MANE Select	NP_852259.1:p.His164Gln
NM_080717.4:c.342C>G	NP_542448.1:p.His114Gln