Canonical Allele Identifier: CA7280323

Gene: TGFB3 IFT43

Linked Data

• ClinVar Variation Id: 410274
• ClinVar RCV Id: RCV000482159 ; RCV002374792 ; RCV002496780 ; RCV003985017 ; RCV002526427
• dbSNP Id: rs145121701
• ExAC: 14:76429713 G / A
• gnomAD v2: 14-76429713-G-A
• gnomAD v3: 14-75963370-G-A
• gnomAD v4: 14-75963370-G-A
• MyVariant Identifiers: chr14:g.76429713G>A (hg19) ; chr14:g.75963370G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.75963370G>A , CM000676.2:g.75963370G>A	GRCh38
NC_000014.8:g.76429713G>A , CM000676.1:g.76429713G>A	GRCh37
NC_000014.7:g.75499466G>A	NCBI36
NG_011715.1:g.23380C>T , LRG_399:g.23380C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000238682.8:c.872C>T (TGFB3) MANE Select	ENSP00000238682.3:p.Pro291Leu
ENST00000556674.2:c.872C>T (TGFB3)	ENSP00000502685.1:p.Pro291Leu
ENST00000238682.7:c.872C>T (TGFB3)	ENSP00000238682.3:p.Pro291Leu
ENST00000554980.5:n.1253C>T (TGFB3)
ENST00000555677.5:n.90-25515G>A (IFT43)
ENST00000556285.1:c.872C>T (TGFB3)	ENSP00000451110.1:p.Pro291Leu
ENST00000557493.1:n.338C>T (TGFB3)
NM_003239.3:c.872C>T (TGFB3)	NP_003230.1:p.Pro291Leu
XM_005268028.1:c.872C>T (TGFB3)	XP_005268085.1:p.Pro291Leu
NM_001329938.1:c.872C>T (TGFB3)	NP_001316867.1:p.Pro291Leu
NM_001329939.1:c.872C>T (TGFB3)	NP_001316868.1:p.Pro291Leu
NM_003239.4:c.872C>T (TGFB3)	NP_003230.1:p.Pro291Leu
NM_001329938.2:c.872C>T (TGFB3)	NP_001316867.1:p.Pro291Leu
NM_001329939.2:c.872C>T (TGFB3)	NP_001316868.1:p.Pro291Leu
NM_003239.5:c.872C>T (TGFB3) MANE Select	NP_003230.1:p.Pro291Leu