Canonical Allele Identifier: CA390467959

Gene: TGFB3 IFT43

Linked Data

• MyVariant Identifiers: chr14:g.76427353C>A (hg19) ; chr14:g.75961010C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.75961010C>A , CM000676.2:g.75961010C>A	GRCh38
NC_000014.8:g.76427353C>A , CM000676.1:g.76427353C>A	GRCh37
NC_000014.7:g.75497106C>A	NCBI36
NG_011715.1:g.25740G>T , LRG_399:g.25740G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000238682.8:c.993G>T (TGFB3) MANE Select	ENSP00000238682.3:p.Lys331Asn
ENST00000556674.2:c.993G>T (TGFB3)	ENSP00000502685.1:p.Lys331Asn
ENST00000238682.7:c.993G>T (TGFB3)	ENSP00000238682.3:p.Lys331Asn
ENST00000554980.5:n.1374G>T (TGFB3)
ENST00000555677.5:n.90-27875C>A (IFT43)
ENST00000557493.1:n.459G>T (TGFB3)
NM_003239.3:c.993G>T (TGFB3)	NP_003230.1:p.Lys331Asn
XM_005268028.1:c.993G>T (TGFB3)	XP_005268085.1:p.Lys331Asn
NM_001329939.1:c.993G>T (TGFB3)	NP_001316868.1:p.Lys331Asn
NM_003239.4:c.993G>T (TGFB3)	NP_003230.1:p.Lys331Asn
NM_001329939.2:c.993G>T (TGFB3)	NP_001316868.1:p.Lys331Asn
NM_003239.5:c.993G>T (TGFB3) MANE Select	NP_003230.1:p.Lys331Asn