Canonical Allele Identifier: CA237516

Gene: TGFB3 IFT43

Linked Data

• ClinVar Variation Id: 191778
• ClinVar RCV Id: RCV000172111 ; RCV001262531 ; RCV002345587 ; RCV002515260
• dbSNP Id: rs201063101
• ExAC: 14:76437556 C / T
• gnomAD v2: 14-76437556-C-T
• gnomAD v3: 14-75971213-C-T
• gnomAD v4: 14-75971213-C-T
• MyVariant Identifiers: chr14:g.76437556C>T (hg19) ; chr14:g.75971213C>T (hg38)
• PubMed: PMID:23861362

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.75971213C>T , CM000676.2:g.75971213C>T	GRCh38
NC_000014.8:g.76437556C>T , CM000676.1:g.76437556C>T	GRCh37
NC_000014.7:g.75507309C>T	NCBI36
NG_011715.1:g.15537G>A , LRG_399:g.15537G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000238682.8:c.559G>A (TGFB3) MANE Select	ENSP00000238682.3:p.Gly187Ser
ENST00000556674.2:c.559G>A (TGFB3)	ENSP00000502685.1:p.Gly187Ser
ENST00000238682.7:c.559G>A (TGFB3)	ENSP00000238682.3:p.Gly187Ser
ENST00000555677.5:n.90-17672C>T (IFT43)
ENST00000556285.1:c.559G>A (TGFB3)	ENSP00000451110.1:p.Gly187Ser
NM_003239.3:c.559G>A (TGFB3)	NP_003230.1:p.Gly187Ser
XM_005268028.1:c.559G>A (TGFB3)	XP_005268085.1:p.Gly187Ser
NM_001329938.1:c.559G>A (TGFB3)	NP_001316867.1:p.Gly187Ser
NM_001329939.1:c.559G>A (TGFB3)	NP_001316868.1:p.Gly187Ser
NM_003239.4:c.559G>A (TGFB3)	NP_003230.1:p.Gly187Ser
NM_001329938.2:c.559G>A (TGFB3)	NP_001316867.1:p.Gly187Ser
NM_001329939.2:c.559G>A (TGFB3)	NP_001316868.1:p.Gly187Ser
NM_003239.5:c.559G>A (TGFB3) MANE Select	NP_003230.1:p.Gly187Ser