Canonical Allele Identifier: CA263707869

Gene: TGFB3 IFT43

Linked Data

• dbSNP Id: rs981162079
• gnomAD v3: 14-75973035-G-A
• gnomAD v4: 14-75973035-G-A
• MyVariant Identifiers: chr14:g.76439378G>A (hg19) ; chr14:g.75973035G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.75973035G>A , CM000676.2:g.75973035G>A	GRCh38
NC_000014.8:g.76439378G>A , CM000676.1:g.76439378G>A	GRCh37
NC_000014.7:g.75509131G>A	NCBI36
NG_011715.1:g.13715C>T , LRG_399:g.13715C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000238682.8:c.353-1317C>T (TGFB3) MANE Select	ENSP00000238682.3:n.353-1317C>T
ENST00000556674.2:c.353-1317C>T (TGFB3)	ENSP00000502685.1:n.353-1317C>T
ENST00000238682.7:c.353-1317C>T (TGFB3)	ENSP00000238682.3:n.353-1317C>T
ENST00000555677.5:n.90-15850G>A (IFT43)
ENST00000556285.1:c.353-1317C>T (TGFB3)	ENSP00000451110.1:n.353-1317C>T
NM_003239.3:c.353-1317C>T (TGFB3)	NP_003230.1:n.353-1317C>T
XM_005268028.1:c.353-1317C>T (TGFB3)	XP_005268085.1:n.353-1317C>T
NM_001329938.1:c.353-1317C>T (TGFB3)	NP_001316867.1:n.353-1317C>T
NM_001329939.1:c.353-1317C>T (TGFB3)	NP_001316868.1:n.353-1317C>T
NM_003239.4:c.353-1317C>T (TGFB3)	NP_003230.1:n.353-1317C>T
NM_001329938.2:c.353-1317C>T (TGFB3)	NP_001316867.1:n.353-1317C>T
NM_001329939.2:c.353-1317C>T (TGFB3)	NP_001316868.1:n.353-1317C>T
NM_003239.5:c.353-1317C>T (TGFB3) MANE Select	NP_003230.1:n.353-1317C>T