Canonical Allele Identifier: CA390468973

Gene: TGFB3 IFT43

Linked Data

• ClinVar Variation Id: 1369802
• ClinVar RCV Id: RCV002551074
• dbSNP Id: rs1280447804
• gnomAD v2: 14-76432005-C-T
• MyVariant Identifiers: chr14:g.76432005C>T (hg19) ; chr14:g.75965662C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.75965662C>T , CM000676.2:g.75965662C>T	GRCh38
NC_000014.8:g.76432005C>T , CM000676.1:g.76432005C>T	GRCh37
NC_000014.7:g.75501758C>T	NCBI36
NG_011715.1:g.21088G>A , LRG_399:g.21088G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000238682.8:c.680G>A (TGFB3) MANE Select	ENSP00000238682.3:p.Cys227Tyr
ENST00000556674.2:c.680G>A (TGFB3)	ENSP00000502685.1:p.Cys227Tyr
ENST00000238682.7:c.680G>A (TGFB3)	ENSP00000238682.3:p.Cys227Tyr
ENST00000554980.5:n.1061G>A (TGFB3)
ENST00000555677.5:n.90-23223C>T (IFT43)
ENST00000556285.1:c.680G>A (TGFB3)	ENSP00000451110.1:p.Cys227Tyr
ENST00000557493.1:n.146G>A (TGFB3)
NM_003239.3:c.680G>A (TGFB3)	NP_003230.1:p.Cys227Tyr
XM_005268028.1:c.680G>A (TGFB3)	XP_005268085.1:p.Cys227Tyr
NM_001329938.1:c.680G>A (TGFB3)	NP_001316867.1:p.Cys227Tyr
NM_001329939.1:c.680G>A (TGFB3)	NP_001316868.1:p.Cys227Tyr
NM_003239.4:c.680G>A (TGFB3)	NP_003230.1:p.Cys227Tyr
NM_001329938.2:c.680G>A (TGFB3)	NP_001316867.1:p.Cys227Tyr
NM_001329939.2:c.680G>A (TGFB3)	NP_001316868.1:p.Cys227Tyr
NM_003239.5:c.680G>A (TGFB3) MANE Select	NP_003230.1:p.Cys227Tyr