Canonical Allele Identifier: CA263701809

Gene: TGFB3 IFT43

Linked Data

• dbSNP Id: rs905287880
• gnomAD v4: 14-75960854-T-A
• MyVariant Identifiers: chr14:g.76427197T>A (hg19) ; chr14:g.75960854T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.75960854T>A , CM000676.2:g.75960854T>A	GRCh38
NC_000014.8:g.76427197T>A , CM000676.1:g.76427197T>A	GRCh37
NC_000014.7:g.75496950T>A	NCBI36
NG_011715.1:g.25896A>T , LRG_399:g.25896A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000238682.8:c.1080+69A>T (TGFB3) MANE Select	ENSP00000238682.3:n.1080+69A>T
ENST00000556674.2:c.1080+69A>T (TGFB3)	ENSP00000502685.1:n.1080+69A>T
ENST00000238682.7:c.1080+69A>T (TGFB3)	ENSP00000238682.3:n.1080+69A>T
ENST00000554980.5:n.1461+69A>T (TGFB3)
ENST00000555677.5:n.90-28031T>A (IFT43)
ENST00000556507.1:n.35+69A>T (TGFB3)
NM_003239.3:c.1080+69A>T (TGFB3)	NP_003230.1:n.1080+69A>T
XM_005268028.1:c.1080+69A>T (TGFB3)	XP_005268085.1:n.1080+69A>T
NM_001329939.1:c.1080+69A>T (TGFB3)	NP_001316868.1:n.1080+69A>T
NM_003239.4:c.1080+69A>T (TGFB3)	NP_003230.1:n.1080+69A>T
NM_001329939.2:c.1080+69A>T (TGFB3)	NP_001316868.1:n.1080+69A>T
NM_003239.5:c.1080+69A>T (TGFB3) MANE Select	NP_003230.1:n.1080+69A>T