Canonical Allele Identifier: CA6809375

Gene: TBX5

Linked Data

• ClinVar Variation Id: 495729
• ClinVar RCV Id: RCV000588683 ; RCV000615903 ; RCV000619805 ; RCV001085662
• dbSNP Id: rs114124210
• ExAC: 12:114793660 C / T
• gnomAD v2: 12-114793660-C-T
• gnomAD v3: 12-114355855-C-T
• gnomAD v4: 12-114355855-C-T
• COSMIC: COSM1359026
• MyVariant Identifiers: chr12:g.114793660C>T (hg19) ; chr12:g.114355855C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.114355855C>T , CM000674.2:g.114355855C>T	GRCh38
NC_000012.11:g.114793660C>T , CM000674.1:g.114793660C>T	GRCh37
NC_000012.10:g.113278043C>T	NCBI36
NG_007373.1:g.57588G>A , LRG_670:g.57588G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000405440.7:c.1234G>A MANE Select	ENSP00000384152.3:p.Val412Ile
ENST00000310346.8:c.1234G>A	ENSP00000309913.4:p.Val412Ile
ENST00000349716.9:c.1084G>A	ENSP00000337723.5:p.Val362Ile
ENST00000405440.6:c.1234G>A	ENSP00000384152.2:p.Val412Ile
NM_000192.3:c.1234G>A , LRG_670t1:c.1234G>A	NP_000183.2:p.Val412Ile
NM_080717.2:c.1084G>A	NP_542448.1:p.Val362Ile
NM_181486.2:c.1234G>A	NP_852259.1:p.Val412Ile
XM_017019912.1:c.1282G>A	XP_016875401.1:p.Val428Ile
NM_080717.3:c.1084G>A	NP_542448.1:p.Val362Ile
NM_181486.4:c.1234G>A MANE Select	NP_852259.1:p.Val412Ile
NM_080717.4:c.1084G>A	NP_542448.1:p.Val362Ile