Canonical Allele Identifier: CA390467133

Gene: TGFB3 IFT43

Linked Data

• ClinVar Variation Id: 520210
• ClinVar RCV Id: RCV001702694 ; RCV002315251 ; RCV002531855
• dbSNP Id: rs1555360033
• gnomAD v4: 14-75959288-G-A
• MyVariant Identifiers: chr14:g.76425631G>A (hg19) ; chr14:g.75959288G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.75959288G>A , CM000676.2:g.75959288G>A	GRCh38
NC_000014.8:g.76425631G>A , CM000676.1:g.76425631G>A	GRCh37
NC_000014.7:g.75495384G>A	NCBI36
NG_011715.1:g.27462C>T , LRG_399:g.27462C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000238682.8:c.1138C>T (TGFB3) MANE Select	ENSP00000238682.3:p.Pro380Ser
ENST00000556674.2:c.1138C>T (TGFB3)	ENSP00000502685.1:p.Pro380Ser
ENST00000238682.7:c.1138C>T (TGFB3)	ENSP00000238682.3:p.Pro380Ser
ENST00000554980.5:n.1519C>T (TGFB3)
ENST00000555677.5:n.90-29597G>A (IFT43)
NM_003239.3:c.1138C>T (TGFB3)	NP_003230.1:p.Pro380Ser
XM_005268028.1:c.1138C>T (TGFB3)	XP_005268085.1:p.Pro380Ser
NM_001329939.1:c.1138C>T (TGFB3)	NP_001316868.1:p.Pro380Ser
NM_003239.4:c.1138C>T (TGFB3)	NP_003230.1:p.Pro380Ser
NM_001329939.2:c.1138C>T (TGFB3)	NP_001316868.1:p.Pro380Ser
NM_003239.5:c.1138C>T (TGFB3) MANE Select	NP_003230.1:p.Pro380Ser