Canonical Allele Identifier: CA2625774616

Gene: TGFB3 IFT43

Linked Data

• gnomAD v4: 14-75980948-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.75980948C>G , CM000676.2:g.75980948C>G	GRCh38
NC_000014.8:g.76447291C>G , CM000676.1:g.76447291C>G	GRCh37
NC_000014.7:g.75517044C>G	NCBI36
NG_011715.1:g.5802G>C , LRG_399:g.5802G>C
NG_031957.1:g.196C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000238682.8:c.-55G>C (TGFB3) MANE Select	ENSP00000238682.3:n.-55G>C
ENST00000556674.2:c.-55G>C (TGFB3)	ENSP00000502685.1:n.-55G>C
ENST00000238682.7:c.-55G>C (TGFB3)	ENSP00000238682.3:n.-55G>C
ENST00000555193.1:n.177G>C (TGFB3)
ENST00000555677.5:n.90-7937C>G (IFT43)
ENST00000556285.1:c.-55G>C (TGFB3)	ENSP00000451110.1:n.-55G>C
NM_003239.3:c.-55G>C (TGFB3)	NP_003230.1:n.-55G>C
XM_005268028.1:c.-55G>C (TGFB3)	XP_005268085.1:n.-55G>C
NM_001329938.1:c.-55G>C (TGFB3)	NP_001316867.1:n.-55G>C
NM_001329939.1:c.-55G>C (TGFB3)	NP_001316868.1:n.-55G>C
NM_003239.4:c.-55G>C (TGFB3)	NP_003230.1:n.-55G>C
NM_001329938.2:c.-55G>C (TGFB3)	NP_001316867.1:n.-55G>C
NM_001329939.2:c.-55G>C (TGFB3)	NP_001316868.1:n.-55G>C
NM_003239.5:c.-55G>C (TGFB3) MANE Select	NP_003230.1:n.-55G>C