Canonical Allele Identifier: CA487188920

Gene: TGFB3 IFT43

Linked Data

• ClinVar Variation Id: 2990388
• ClinVar RCV Id: RCV003845083
• dbSNP Id: rs1349978150
• gnomAD v2: 14-76427287-A-G
• MyVariant Identifiers: chr14:g.76427287A>G (hg19) ; chr14:g.75960944A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.75960944A>G , CM000676.2:g.75960944A>G	GRCh38
NC_000014.8:g.76427287A>G , CM000676.1:g.76427287A>G	GRCh37
NC_000014.7:g.75497040A>G	NCBI36
NG_011715.1:g.25806T>C , LRG_399:g.25806T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000238682.8:c.1059T>C (TGFB3) MANE Select	ENSP00000238682.3:p.Ser353=
ENST00000556674.2:c.1059T>C (TGFB3)	ENSP00000502685.1:p.Ser353=
ENST00000238682.7:c.1059T>C (TGFB3)	ENSP00000238682.3:p.Ser353=
ENST00000554980.5:n.1440T>C (TGFB3)
ENST00000555677.5:n.90-27941A>G (IFT43)
ENST00000556507.1:n.14T>C (TGFB3)
ENST00000557493.1:n.525T>C (TGFB3)
NM_003239.3:c.1059T>C (TGFB3)	NP_003230.1:p.Ser353=
XM_005268028.1:c.1059T>C (TGFB3)	XP_005268085.1:p.Ser353=
NM_001329939.1:c.1059T>C (TGFB3)	NP_001316868.1:p.Ser353=
NM_003239.4:c.1059T>C (TGFB3)	NP_003230.1:p.Ser353=
NM_001329939.2:c.1059T>C (TGFB3)	NP_001316868.1:p.Ser353=
NM_003239.5:c.1059T>C (TGFB3) MANE Select	NP_003230.1:p.Ser353=