Canonical Allele Identifier: CA7280546

Gene: TGFB3 IFT43

Linked Data

• dbSNP Id: rs769591099
• ExAC: 14:76447282 G / C
• gnomAD v2: 14-76447282-G-C
• gnomAD v3: 14-75980939-G-C
• gnomAD v4: 14-75980939-G-C
• MyVariant Identifiers: chr14:g.76447282G>C (hg19) ; chr14:g.75980939G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.75980939G>C , CM000676.2:g.75980939G>C	GRCh38
NC_000014.8:g.76447282G>C , CM000676.1:g.76447282G>C	GRCh37
NC_000014.7:g.75517035G>C	NCBI36
NG_011715.1:g.5811C>G , LRG_399:g.5811C>G
NG_031957.1:g.187G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000238682.8:c.-46C>G (TGFB3) MANE Select	ENSP00000238682.3:n.-46C>G
ENST00000556674.2:c.-46C>G (TGFB3)	ENSP00000502685.1:n.-46C>G
ENST00000238682.7:c.-46C>G (TGFB3)	ENSP00000238682.3:n.-46C>G
ENST00000555193.1:n.186C>G (TGFB3)
ENST00000555677.5:n.90-7946G>C (IFT43)
ENST00000556285.1:c.-46C>G (TGFB3)	ENSP00000451110.1:n.-46C>G
NM_003239.3:c.-46C>G (TGFB3)	NP_003230.1:n.-46C>G
XM_005268028.1:c.-46C>G (TGFB3)	XP_005268085.1:n.-46C>G
NM_001329938.1:c.-46C>G (TGFB3)	NP_001316867.1:n.-46C>G
NM_001329939.1:c.-46C>G (TGFB3)	NP_001316868.1:n.-46C>G
NM_003239.4:c.-46C>G (TGFB3)	NP_003230.1:n.-46C>G
NM_001329938.2:c.-46C>G (TGFB3)	NP_001316867.1:n.-46C>G
NM_001329939.2:c.-46C>G (TGFB3)	NP_001316868.1:n.-46C>G
NM_003239.5:c.-46C>G (TGFB3) MANE Select	NP_003230.1:n.-46C>G