Canonical Allele Identifier: CA390467614

Gene: TGFB3 IFT43

Linked Data

• ClinVar Variation Id: 840650
• ClinVar RCV Id: RCV002551517
• dbSNP Id: rs2035148476
• MyVariant Identifiers: chr14:g.76427282T>C (hg19) ; chr14:g.75960939T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.75960939T>C , CM000676.2:g.75960939T>C	GRCh38
NC_000014.8:g.76427282T>C , CM000676.1:g.76427282T>C	GRCh37
NC_000014.7:g.75497035T>C	NCBI36
NG_011715.1:g.25811A>G , LRG_399:g.25811A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000238682.8:c.1064A>G (TGFB3) MANE Select	ENSP00000238682.3:p.Asp355Gly
ENST00000556674.2:c.1064A>G (TGFB3)	ENSP00000502685.1:p.Asp355Gly
ENST00000238682.7:c.1064A>G (TGFB3)	ENSP00000238682.3:p.Asp355Gly
ENST00000554980.5:n.1445A>G (TGFB3)
ENST00000555677.5:n.90-27946T>C (IFT43)
ENST00000556507.1:n.19A>G (TGFB3)
ENST00000557493.1:n.530A>G (TGFB3)
NM_003239.3:c.1064A>G (TGFB3)	NP_003230.1:p.Asp355Gly
XM_005268028.1:c.1064A>G (TGFB3)	XP_005268085.1:p.Asp355Gly
NM_001329939.1:c.1064A>G (TGFB3)	NP_001316868.1:p.Asp355Gly
NM_003239.4:c.1064A>G (TGFB3)	NP_003230.1:p.Asp355Gly
NM_001329939.2:c.1064A>G (TGFB3)	NP_001316868.1:p.Asp355Gly
NM_003239.5:c.1064A>G (TGFB3) MANE Select	NP_003230.1:p.Asp355Gly