Canonical Allele Identifier: CA390468449

Gene: TGFB3 IFT43

Linked Data

• ClinVar Variation Id: 2107174
• ClinVar RCV Id: RCV003045558
• MyVariant Identifiers: chr14:g.76429750T>G (hg19) ; chr14:g.75963407T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.75963407T>G , CM000676.2:g.75963407T>G	GRCh38
NC_000014.8:g.76429750T>G , CM000676.1:g.76429750T>G	GRCh37
NC_000014.7:g.75499503T>G	NCBI36
NG_011715.1:g.23343A>C , LRG_399:g.23343A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000238682.8:c.835A>C (TGFB3) MANE Select	ENSP00000238682.3:p.Ile279Leu
ENST00000556674.2:c.835A>C (TGFB3)	ENSP00000502685.1:p.Ile279Leu
ENST00000238682.7:c.835A>C (TGFB3)	ENSP00000238682.3:p.Ile279Leu
ENST00000554980.5:n.1216A>C (TGFB3)
ENST00000555677.5:n.90-25478T>G (IFT43)
ENST00000556285.1:c.835A>C (TGFB3)	ENSP00000451110.1:p.Ile279Leu
ENST00000557493.1:n.301A>C (TGFB3)
NM_003239.3:c.835A>C (TGFB3)	NP_003230.1:p.Ile279Leu
XM_005268028.1:c.835A>C (TGFB3)	XP_005268085.1:p.Ile279Leu
NM_001329938.1:c.835A>C (TGFB3)	NP_001316867.1:p.Ile279Leu
NM_001329939.1:c.835A>C (TGFB3)	NP_001316868.1:p.Ile279Leu
NM_003239.4:c.835A>C (TGFB3)	NP_003230.1:p.Ile279Leu
NM_001329938.2:c.835A>C (TGFB3)	NP_001316867.1:p.Ile279Leu
NM_001329939.2:c.835A>C (TGFB3)	NP_001316868.1:p.Ile279Leu
NM_003239.5:c.835A>C (TGFB3) MANE Select	NP_003230.1:p.Ile279Leu