Canonical Allele Identifier: CA390468539

Gene: TGFB3 IFT43

Linked Data

• ClinVar Variation Id: 1478074
• ClinVar RCV Id: RCV002423182 ; RCV002573481
• dbSNP Id: rs2035183279
• gnomAD v3: 14-75963430-T-C
• gnomAD v4: 14-75963430-T-C
• MyVariant Identifiers: chr14:g.76429773T>C (hg19) ; chr14:g.75963430T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.75963430T>C , CM000676.2:g.75963430T>C	GRCh38
NC_000014.8:g.76429773T>C , CM000676.1:g.76429773T>C	GRCh37
NC_000014.7:g.75499526T>C	NCBI36
NG_011715.1:g.23320A>G , LRG_399:g.23320A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000238682.8:c.812A>G (TGFB3) MANE Select	ENSP00000238682.3:p.Lys271Arg
ENST00000556674.2:c.812A>G (TGFB3)	ENSP00000502685.1:p.Lys271Arg
ENST00000238682.7:c.812A>G (TGFB3)	ENSP00000238682.3:p.Lys271Arg
ENST00000554980.5:n.1193A>G (TGFB3)
ENST00000555677.5:n.90-25455T>C (IFT43)
ENST00000556285.1:c.812A>G (TGFB3)	ENSP00000451110.1:p.Lys271Arg
ENST00000557493.1:n.278A>G (TGFB3)
NM_003239.3:c.812A>G (TGFB3)	NP_003230.1:p.Lys271Arg
XM_005268028.1:c.812A>G (TGFB3)	XP_005268085.1:p.Lys271Arg
NM_001329938.1:c.812A>G (TGFB3)	NP_001316867.1:p.Lys271Arg
NM_001329939.1:c.812A>G (TGFB3)	NP_001316868.1:p.Lys271Arg
NM_003239.4:c.812A>G (TGFB3)	NP_003230.1:p.Lys271Arg
NM_001329938.2:c.812A>G (TGFB3)	NP_001316867.1:p.Lys271Arg
NM_001329939.2:c.812A>G (TGFB3)	NP_001316868.1:p.Lys271Arg
NM_003239.5:c.812A>G (TGFB3) MANE Select	NP_003230.1:p.Lys271Arg