Allele Registry

Canonical Allele Identifier: CA15820261

Gene: TGFB3 HGNC NCBI
IFT43 HGNC NCBI

Linked Data - Expert Curation

COSMIC:

COSN19617853 (not active)

COSN19695916 (not active)

COSN20053668 (not active)

Linked Data - Predicted Effect Evidence

MyVariant.info:

GRCh38 chr14:g.75965793T>C

GRCh37 chr14:g.76432136T>C

Linked Data - Sequence & Population

gnomAD v2:

14:76432136 T / C

gnomAD v3:

14:75965793 T / C

gnomAD v4:

chr14-75965793-T-C

Joint Max Group AF 0.76311651 (NFE)

Genomes Max Group AF 0.75758103 (NFE)

Exomes Max Group AF 0.76324127 (NFE)

Linked Data - NCBI & NCI

ClinVar RCV:

RCV001609880

ClinVar Variation:

1231224

dbSNP:

3917187

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.75965793T>C , CM000676.2:g.75965793T>C	GRCh38
NC_000014.8:g.76432136T>C , CM000676.1:g.76432136T>C	GRCh37
NC_000014.7:g.75501889T>C	NCBI36
NG_011715.1:g.20957A>G , LRG_399:g.20957A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000238682.8:c.647-98A>G (TGFB3) MANE Select	ENSP00000238682.3:n.647-98A>G
ENST00000556674.2:c.647-98A>G (TGFB3)	ENSP00000502685.1:n.647-98A>G
ENST00000238682.7:c.647-98A>G (TGFB3)	ENSP00000238682.3:n.647-98A>G
ENST00000554980.5:n.930A>G (TGFB3)
ENST00000555677.5:n.90-23092T>C (IFT43)
ENST00000556285.1:c.647-98A>G (TGFB3)	ENSP00000451110.1:n.647-98A>G
ENST00000557493.1:n.113-98A>G (TGFB3)
NM_003239.3:c.647-98A>G (TGFB3)	NP_003230.1:n.647-98A>G
XM_005268028.1:c.647-98A>G (TGFB3)	XP_005268085.1:n.647-98A>G
NM_001329938.1:c.647-98A>G (TGFB3)	NP_001316867.1:n.647-98A>G
NM_001329939.1:c.647-98A>G (TGFB3)	NP_001316868.1:n.647-98A>G
NM_003239.4:c.647-98A>G (TGFB3)	NP_003230.1:n.647-98A>G
NM_001329938.2:c.647-98A>G (TGFB3)	NP_001316867.1:n.647-98A>G
NM_001329939.2:c.647-98A>G (TGFB3)	NP_001316868.1:n.647-98A>G
NM_003239.5:c.647-98A>G (TGFB3) MANE Select	NP_003230.1:n.647-98A>G

Search 100 bp 5'

Search 100 bp 3'