Canonical Allele Identifier: CA353994

Gene: TGFB3 IFT43

Linked Data

• ClinVar Variation Id: 222835
• ClinVar RCV Id: RCV000208388 ; RCV002223817 ; RCV004020564 ; RCV002517407
• dbSNP Id: rs869025534
• gnomAD v2: 14-76437594-A-T
• gnomAD v3: 14-75971251-A-T
• gnomAD v4: 14-75971251-A-T
• MyVariant Identifiers: chr14:g.76437594A>T (hg19) ; chr14:g.75971251A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.75971251A>T , CM000676.2:g.75971251A>T	GRCh38
NC_000014.8:g.76437594A>T , CM000676.1:g.76437594A>T	GRCh37
NC_000014.7:g.75507347A>T	NCBI36
NG_011715.1:g.15499T>A , LRG_399:g.15499T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000238682.8:c.521T>A (TGFB3) MANE Select	ENSP00000238682.3:p.Leu174His
ENST00000556674.2:c.521T>A (TGFB3)	ENSP00000502685.1:p.Leu174His
ENST00000238682.7:c.521T>A (TGFB3)	ENSP00000238682.3:p.Leu174His
ENST00000555677.5:n.90-17634A>T (IFT43)
ENST00000556285.1:c.521T>A (TGFB3)	ENSP00000451110.1:p.Leu174His
NM_003239.3:c.521T>A (TGFB3)	NP_003230.1:p.Leu174His
XM_005268028.1:c.521T>A (TGFB3)	XP_005268085.1:p.Leu174His
NM_001329938.1:c.521T>A (TGFB3)	NP_001316867.1:p.Leu174His
NM_001329939.1:c.521T>A (TGFB3)	NP_001316868.1:p.Leu174His
NM_003239.4:c.521T>A (TGFB3)	NP_003230.1:p.Leu174His
NM_001329938.2:c.521T>A (TGFB3)	NP_001316867.1:p.Leu174His
NM_001329939.2:c.521T>A (TGFB3)	NP_001316868.1:p.Leu174His
NM_003239.5:c.521T>A (TGFB3) MANE Select	NP_003230.1:p.Leu174His