Canonical Allele Identifier: CA256457

Linked Data

ClinVar Variation Id: 12475
dbSNP Id: rs387906514

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.75958692G>A , CM000676.2:g.75958692G>A GRCh38
NC_000014.8:g.76425035G>A , CM000676.1:g.76425035G>A GRCh37
NC_000014.7:g.75494788G>A NCBI36
NG_011715.1:g.28058C>T , LRG_399:g.28058C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000238682.8:c.*495C>T (TGFB3) MANE Select ENSP00000238682.3:n.*495C>T
ENST00000556674.2:c.*495C>T (TGFB3) ENSP00000502685.1:n.*495C>T
ENST00000238682.7:c.*495C>T (TGFB3) ENSP00000238682.3:n.*495C>T
ENST00000554980.5:n.2115C>T (TGFB3)
ENST00000555677.5:n.90-30193G>A (IFT43)
NM_003239.3:c.*495C>T (TGFB3) NP_003230.1:n.*495C>T
XM_005268028.1:c.*495C>T (TGFB3) XP_005268085.1:n.*495C>T
NM_001329939.1:c.*495C>T (TGFB3) NP_001316868.1:n.*495C>T
NM_003239.4:c.*495C>T (TGFB3) NP_003230.1:n.*495C>T
NM_001329939.2:c.*495C>T (TGFB3) NP_001316868.1:n.*495C>T
NM_003239.5:c.*495C>T (TGFB3) MANE Select NP_003230.1:n.*495C>T