Canonical Allele Identifier: CA6809358

Gene: TBX5

Linked Data

• ClinVar Variation Id: 307303
• ClinVar RCV Id: RCV000296666 ; RCV002379183 ; RCV002522221 ; RCV003957593
• dbSNP Id: rs557758851
• ExAC: 12:114793581 C / T
• gnomAD v2: 12-114793581-C-T
• gnomAD v3: 12-114355776-C-T
• gnomAD v4: 12-114355776-C-T
• COSMIC: COSM3398390
• MyVariant Identifiers: chr12:g.114793581C>T (hg19) ; chr12:g.114355776C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.114355776C>T , CM000674.2:g.114355776C>T	GRCh38
NC_000012.11:g.114793581C>T , CM000674.1:g.114793581C>T	GRCh37
NC_000012.10:g.113277964C>T	NCBI36
NG_007373.1:g.57667G>A , LRG_670:g.57667G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000405440.7:c.1313G>A MANE Select	ENSP00000384152.3:p.Arg438Gln
ENST00000310346.8:c.1313G>A	ENSP00000309913.4:p.Arg438Gln
ENST00000349716.9:c.1163G>A	ENSP00000337723.5:p.Arg388Gln
ENST00000405440.6:c.1313G>A	ENSP00000384152.2:p.Arg438Gln
NM_000192.3:c.1313G>A , LRG_670t1:c.1313G>A	NP_000183.2:p.Arg438Gln
NM_080717.2:c.1163G>A	NP_542448.1:p.Arg388Gln
NM_181486.2:c.1313G>A	NP_852259.1:p.Arg438Gln
XM_017019912.1:c.1361G>A	XP_016875401.1:p.Arg454Gln
NM_080717.3:c.1163G>A	NP_542448.1:p.Arg388Gln
NM_181486.4:c.1313G>A MANE Select	NP_852259.1:p.Arg438Gln
NM_080717.4:c.1163G>A	NP_542448.1:p.Arg388Gln