Canonical Allele Identifier: CA390468046

Gene: TGFB3 IFT43

Linked Data

• ClinVar Variation Id: 1053757
• ClinVar RCV Id: RCV001570942 ; RCV002377515 ; RCV003103977
• dbSNP Id: rs2140236263
• COSMIC: COSM4052521
• MyVariant Identifiers: chr14:g.76427394G>A (hg19) ; chr14:g.75961051G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.75961051G>A , CM000676.2:g.75961051G>A	GRCh38
NC_000014.8:g.76427394G>A , CM000676.1:g.76427394G>A	GRCh37
NC_000014.7:g.75497147G>A	NCBI36
NG_011715.1:g.25699C>T , LRG_399:g.25699C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000238682.8:c.952C>T (TGFB3) MANE Select	ENSP00000238682.3:p.Arg318Cys
ENST00000556674.2:c.952C>T (TGFB3)	ENSP00000502685.1:p.Arg318Cys
ENST00000238682.7:c.952C>T (TGFB3)	ENSP00000238682.3:p.Arg318Cys
ENST00000554980.5:n.1333C>T (TGFB3)
ENST00000555677.5:n.90-27834G>A (IFT43)
ENST00000557493.1:n.418C>T (TGFB3)
NM_003239.3:c.952C>T (TGFB3)	NP_003230.1:p.Arg318Cys
XM_005268028.1:c.952C>T (TGFB3)	XP_005268085.1:p.Arg318Cys
NM_001329939.1:c.952C>T (TGFB3)	NP_001316868.1:p.Arg318Cys
NM_003239.4:c.952C>T (TGFB3)	NP_003230.1:p.Arg318Cys
NM_001329939.2:c.952C>T (TGFB3)	NP_001316868.1:p.Arg318Cys
NM_003239.5:c.952C>T (TGFB3) MANE Select	NP_003230.1:p.Arg318Cys