Canonical Allele Identifier: CA7280280

Gene: TGFB3 IFT43

Linked Data

• ClinVar Variation Id: 520205
• ClinVar RCV Id: RCV002315246 ; RCV002532816
• dbSNP Id: rs755894337
• ExAC: 14:76427291 C / T
• gnomAD v2: 14-76427291-C-T
• gnomAD v4: 14-75960948-C-T
• COSMIC: COSM2138780
• MyVariant Identifiers: chr14:g.76427291C>T (hg19) ; chr14:g.75960948C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.75960948C>T , CM000676.2:g.75960948C>T	GRCh38
NC_000014.8:g.76427291C>T , CM000676.1:g.76427291C>T	GRCh37
NC_000014.7:g.75497044C>T	NCBI36
NG_011715.1:g.25802G>A , LRG_399:g.25802G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000238682.8:c.1055G>A (TGFB3) MANE Select	ENSP00000238682.3:p.Arg352His
ENST00000556674.2:c.1055G>A (TGFB3)	ENSP00000502685.1:p.Arg352His
ENST00000238682.7:c.1055G>A (TGFB3)	ENSP00000238682.3:p.Arg352His
ENST00000554980.5:n.1436G>A (TGFB3)
ENST00000555677.5:n.90-27937C>T (IFT43)
ENST00000556507.1:n.10G>A (TGFB3)
ENST00000557493.1:n.521G>A (TGFB3)
NM_003239.3:c.1055G>A (TGFB3)	NP_003230.1:p.Arg352His
XM_005268028.1:c.1055G>A (TGFB3)	XP_005268085.1:p.Arg352His
NM_001329939.1:c.1055G>A (TGFB3)	NP_001316868.1:p.Arg352His
NM_003239.4:c.1055G>A (TGFB3)	NP_003230.1:p.Arg352His
NM_001329939.2:c.1055G>A (TGFB3)	NP_001316868.1:p.Arg352His
NM_003239.5:c.1055G>A (TGFB3) MANE Select	NP_003230.1:p.Arg352His