Canonical Allele Identifier: CA390468503

Gene: TGFB3 IFT43

Linked Data

• ClinVar Variation Id: 1762501
• ClinVar RCV Id: RCV002412507
• MyVariant Identifiers: chr14:g.76429764T>A (hg19) ; chr14:g.75963421T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.75963421T>A , CM000676.2:g.75963421T>A	GRCh38
NC_000014.8:g.76429764T>A , CM000676.1:g.76429764T>A	GRCh37
NC_000014.7:g.75499517T>A	NCBI36
NG_011715.1:g.23329A>T , LRG_399:g.23329A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000238682.8:c.821A>T (TGFB3) MANE Select	ENSP00000238682.3:p.His274Leu
ENST00000556674.2:c.821A>T (TGFB3)	ENSP00000502685.1:p.His274Leu
ENST00000238682.7:c.821A>T (TGFB3)	ENSP00000238682.3:p.His274Leu
ENST00000554980.5:n.1202A>T (TGFB3)
ENST00000555677.5:n.90-25464T>A (IFT43)
ENST00000556285.1:c.821A>T (TGFB3)	ENSP00000451110.1:p.His274Leu
ENST00000557493.1:n.287A>T (TGFB3)
NM_003239.3:c.821A>T (TGFB3)	NP_003230.1:p.His274Leu
XM_005268028.1:c.821A>T (TGFB3)	XP_005268085.1:p.His274Leu
NM_001329938.1:c.821A>T (TGFB3)	NP_001316867.1:p.His274Leu
NM_001329939.1:c.821A>T (TGFB3)	NP_001316868.1:p.His274Leu
NM_003239.4:c.821A>T (TGFB3)	NP_003230.1:p.His274Leu
NM_001329938.2:c.821A>T (TGFB3)	NP_001316867.1:p.His274Leu
NM_001329939.2:c.821A>T (TGFB3)	NP_001316868.1:p.His274Leu
NM_003239.5:c.821A>T (TGFB3) MANE Select	NP_003230.1:p.His274Leu