Canonical Allele Identifier: CA487188916

Gene: TGFB3 IFT43

Linked Data

• ClinVar Variation Id: 2055002
• ClinVar RCV Id: RCV002909930
• dbSNP Id: rs2035148398
• gnomAD v4: 14-75960938-G-A
• MyVariant Identifiers: chr14:g.76427281G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.75960938G>A , CM000676.2:g.75960938G>A	GRCh38
NC_000014.8:g.76427281G>A , CM000676.1:g.76427281G>A	GRCh37
NC_000014.7:g.75497034G>A	NCBI36
NG_011715.1:g.25812C>T , LRG_399:g.25812C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000238682.8:c.1065C>T (TGFB3) MANE Select	ENSP00000238682.3:p.Asp355=
ENST00000556674.2:c.1065C>T (TGFB3)	ENSP00000502685.1:p.Asp355=
ENST00000238682.7:c.1065C>T (TGFB3)	ENSP00000238682.3:p.Asp355=
ENST00000554980.5:n.1446C>T (TGFB3)
ENST00000555677.5:n.90-27947G>A (IFT43)
ENST00000556507.1:n.20C>T (TGFB3)
ENST00000557493.1:n.531C>T (TGFB3)
NM_003239.3:c.1065C>T (TGFB3)	NP_003230.1:p.Asp355=
XM_005268028.1:c.1065C>T (TGFB3)	XP_005268085.1:p.Asp355=
NM_001329939.1:c.1065C>T (TGFB3)	NP_001316868.1:p.Asp355=
NM_003239.4:c.1065C>T (TGFB3)	NP_003230.1:p.Asp355=
NM_001329939.2:c.1065C>T (TGFB3)	NP_001316868.1:p.Asp355=
NM_003239.5:c.1065C>T (TGFB3) MANE Select	NP_003230.1:p.Asp355=