Canonical Allele Identifier: CA203905

Linked Data

ClinVar Variation Id: 203490
dbSNP Id: rs796051885

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.75963344G>A , CM000676.2:g.75963344G>A GRCh38
NC_000014.8:g.76429687G>A , CM000676.1:g.76429687G>A GRCh37
NC_000014.7:g.75499440G>A NCBI36
NG_011715.1:g.23406C>T , LRG_399:g.23406C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000238682.8:c.898C>T (TGFB3) MANE Select ENSP00000238682.3:p.Arg300Trp
ENST00000556674.2:c.898C>T (TGFB3) ENSP00000502685.1:p.Arg300Trp
ENST00000238682.7:c.898C>T (TGFB3) ENSP00000238682.3:p.Arg300Trp
ENST00000554980.5:n.1279C>T (TGFB3)
ENST00000555677.5:n.90-25541G>A (IFT43)
ENST00000556285.1:c.898C>T (TGFB3) ENSP00000451110.1:p.Arg300Trp
ENST00000557493.1:n.364C>T (TGFB3)
NM_003239.3:c.898C>T (TGFB3) NP_003230.1:p.Arg300Trp
XM_005268028.1:c.898C>T (TGFB3) XP_005268085.1:p.Arg300Trp
NM_001329938.1:c.898C>T (TGFB3) NP_001316867.1:p.Arg300Trp
NM_001329939.1:c.898C>T (TGFB3) NP_001316868.1:p.Arg300Trp
NM_003239.4:c.898C>T (TGFB3) NP_003230.1:p.Arg300Trp
NM_001329938.2:c.898C>T (TGFB3) NP_001316867.1:p.Arg300Trp
NM_001329939.2:c.898C>T (TGFB3) NP_001316868.1:p.Arg300Trp
NM_003239.5:c.898C>T (TGFB3) MANE Select NP_003230.1:p.Arg300Trp