Canonical Allele Identifier: CA2625770845

Gene: TGFB3 IFT43

Linked Data

• gnomAD v4: 14-75960815-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.75960815C>A , CM000676.2:g.75960815C>A	GRCh38
NC_000014.8:g.76427158C>A , CM000676.1:g.76427158C>A	GRCh37
NC_000014.7:g.75496911C>A	NCBI36
NG_011715.1:g.25935G>T , LRG_399:g.25935G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000238682.8:c.1080+108G>T (TGFB3) MANE Select	ENSP00000238682.3:n.1080+108G>T
ENST00000556674.2:c.1080+108G>T (TGFB3)	ENSP00000502685.1:n.1080+108G>T
ENST00000238682.7:c.1080+108G>T (TGFB3)	ENSP00000238682.3:n.1080+108G>T
ENST00000554980.5:n.1461+108G>T (TGFB3)
ENST00000555677.5:n.90-28070C>A (IFT43)
ENST00000556507.1:n.35+108G>T (TGFB3)
NM_003239.3:c.1080+108G>T (TGFB3)	NP_003230.1:n.1080+108G>T
XM_005268028.1:c.1080+108G>T (TGFB3)	XP_005268085.1:n.1080+108G>T
NM_001329939.1:c.1080+108G>T (TGFB3)	NP_001316868.1:n.1080+108G>T
NM_003239.4:c.1080+108G>T (TGFB3)	NP_003230.1:n.1080+108G>T
NM_001329939.2:c.1080+108G>T (TGFB3)	NP_001316868.1:n.1080+108G>T
NM_003239.5:c.1080+108G>T (TGFB3) MANE Select	NP_003230.1:n.1080+108G>T