Canonical Allele Identifier: CA487188992

Gene: TGFB3 IFT43

Linked Data

• ClinVar Variation Id: 1767331
• ClinVar RCV Id: RCV002374279
• gnomAD v4: 14-75961049-G-T
• MyVariant Identifiers: chr14:g.76427392G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.75961049G>T , CM000676.2:g.75961049G>T	GRCh38
NC_000014.8:g.76427392G>T , CM000676.1:g.76427392G>T	GRCh37
NC_000014.7:g.75497145G>T	NCBI36
NG_011715.1:g.25701C>A , LRG_399:g.25701C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000238682.8:c.954C>A (TGFB3) MANE Select	ENSP00000238682.3:p.Arg318=
ENST00000556674.2:c.954C>A (TGFB3)	ENSP00000502685.1:p.Arg318=
ENST00000238682.7:c.954C>A (TGFB3)	ENSP00000238682.3:p.Arg318=
ENST00000554980.5:n.1335C>A (TGFB3)
ENST00000555677.5:n.90-27836G>T (IFT43)
ENST00000557493.1:n.420C>A (TGFB3)
NM_003239.3:c.954C>A (TGFB3)	NP_003230.1:p.Arg318=
XM_005268028.1:c.954C>A (TGFB3)	XP_005268085.1:p.Arg318=
NM_001329939.1:c.954C>A (TGFB3)	NP_001316868.1:p.Arg318=
NM_003239.4:c.954C>A (TGFB3)	NP_003230.1:p.Arg318=
NM_001329939.2:c.954C>A (TGFB3)	NP_001316868.1:p.Arg318=
NM_003239.5:c.954C>A (TGFB3) MANE Select	NP_003230.1:p.Arg318=