Canonical Allele Identifier: CA8626448

Gene: TBX21

Linked Data

• ClinVar Variation Id: 2230658
• ClinVar RCV Id: RCV004097194
• dbSNP Id: rs759136182
• ExAC: 17:45822187 T / C
• gnomAD v2: 17-45822187-T-C
• gnomAD v3: 17-47744821-T-C
• gnomAD v4: 17-47744821-T-C
• MyVariant Identifiers: chr17:g.45822187T>C (hg19) ; chr17:g.47744821T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.47744821T>C , CM000679.2:g.47744821T>C	GRCh38
NC_000017.10:g.45822187T>C , CM000679.1:g.45822187T>C	GRCh37
NC_000017.9:g.43177186T>C	NCBI36
NG_012166.1:g.16578T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000177694.2:c.1063T>C MANE Select	ENSP00000177694.1:p.Tyr355His
ENST00000177694.1:c.1063T>C	ENSP00000177694.1:p.Tyr355His
NM_013351.1:c.1063T>C	NP_037483.1:p.Tyr355His
XM_011524698.1:c.1126T>C	XP_011523000.1:p.Tyr376His
XM_011524699.1:c.730T>C	XP_011523001.1:p.Tyr244His
NM_013351.2:c.1063T>C MANE Select	NP_037483.1:p.Tyr355His