Canonical Allele Identifier: CA390466575

Gene: TGFB3 IFT43

Linked Data

• ClinVar Variation Id: 2702561
• ClinVar RCV Id: RCV003583299
• gnomAD v4: 14-75959190-G-C
• MyVariant Identifiers: chr14:g.76425533G>C (hg19) ; chr14:g.75959190G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.75959190G>C , CM000676.2:g.75959190G>C	GRCh38
NC_000014.8:g.76425533G>C , CM000676.1:g.76425533G>C	GRCh37
NC_000014.7:g.75495286G>C	NCBI36
NG_011715.1:g.27560C>G , LRG_399:g.27560C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000238682.8:c.1236C>G (TGFB3) MANE Select	ENSP00000238682.3:p.Ser412Arg
ENST00000556674.2:c.1236C>G (TGFB3)	ENSP00000502685.1:p.Ser412Arg
ENST00000238682.7:c.1236C>G (TGFB3)	ENSP00000238682.3:p.Ser412Arg
ENST00000554980.5:n.1617C>G (TGFB3)
ENST00000555677.5:n.90-29695G>C (IFT43)
NM_003239.3:c.1236C>G (TGFB3)	NP_003230.1:p.Ser412Arg
XM_005268028.1:c.1236C>G (TGFB3)	XP_005268085.1:p.Ser412Arg
NM_001329939.1:c.1236C>G (TGFB3)	NP_001316868.1:p.Ser412Arg
NM_003239.4:c.1236C>G (TGFB3)	NP_003230.1:p.Ser412Arg
NM_001329939.2:c.1236C>G (TGFB3)	NP_001316868.1:p.Ser412Arg
NM_003239.5:c.1236C>G (TGFB3) MANE Select	NP_003230.1:p.Ser412Arg