Canonical Allele Identifier: CA390466571

Gene: TGFB3 IFT43

Linked Data

• ClinVar Variation Id: 2765877
• ClinVar RCV Id: RCV003583942
• MyVariant Identifiers: chr14:g.76425532A>G (hg19) ; chr14:g.75959189A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.75959189A>G , CM000676.2:g.75959189A>G	GRCh38
NC_000014.8:g.76425532A>G , CM000676.1:g.76425532A>G	GRCh37
NC_000014.7:g.75495285A>G	NCBI36
NG_011715.1:g.27561T>C , LRG_399:g.27561T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000238682.8:c.1237T>C (TGFB3) MANE Select	ENSP00000238682.3:p.Ter413Arg
ENST00000556674.2:c.1237T>C (TGFB3)	ENSP00000502685.1:p.Ter413Arg
ENST00000238682.7:c.1237T>C (TGFB3)	ENSP00000238682.3:p.Ter413Arg
ENST00000554980.5:n.1618T>C (TGFB3)
ENST00000555677.5:n.90-29696A>G (IFT43)
NM_003239.3:c.1237T>C (TGFB3)	NP_003230.1:p.Ter413Arg
XM_005268028.1:c.1237T>C (TGFB3)	XP_005268085.1:p.Ter413Arg
NM_001329939.1:c.1237T>C (TGFB3)	NP_001316868.1:p.Ter413Arg
NM_003239.4:c.1237T>C (TGFB3)	NP_003230.1:p.Ter413Arg
NM_001329939.2:c.1237T>C (TGFB3)	NP_001316868.1:p.Ter413Arg
NM_003239.5:c.1237T>C (TGFB3) MANE Select	NP_003230.1:p.Ter413Arg