Canonical Allele Identifier: CA10575734

Linked Data

ClinVar Variation Id: 203489
ClinVar RCV Id: RCV000185629
dbSNP Id: rs875989816

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.75965586A>G , CM000676.2:g.75965586A>G GRCh38
NC_000014.8:g.76431929A>G , CM000676.1:g.76431929A>G GRCh37
NC_000014.7:g.75501682A>G NCBI36
NG_011715.1:g.21164T>C , LRG_399:g.21164T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000238682.8:c.754+2T>C (TGFB3) MANE Select ENSP00000238682.3:n.754+2T>C
ENST00000556674.2:c.754+2T>C (TGFB3) ENSP00000502685.1:n.754+2T>C
ENST00000238682.7:c.754+2T>C (TGFB3) ENSP00000238682.3:n.754+2T>C
ENST00000554980.5:n.1135+2T>C (TGFB3)
ENST00000555677.5:n.90-23299A>G (IFT43)
ENST00000556285.1:c.754+2T>C (TGFB3) ENSP00000451110.1:n.754+2T>C
ENST00000557493.1:n.220+2T>C (TGFB3)
NM_003239.3:c.754+2T>C (TGFB3) NP_003230.1:n.754+2T>C
XM_005268028.1:c.754+2T>C (TGFB3) XP_005268085.1:n.754+2T>C
NM_001329938.1:c.754+2T>C (TGFB3) NP_001316867.1:n.754+2T>C
NM_001329939.1:c.754+2T>C (TGFB3) NP_001316868.1:n.754+2T>C
NM_003239.4:c.754+2T>C (TGFB3) NP_003230.1:n.754+2T>C
NM_001329938.2:c.754+2T>C (TGFB3) NP_001316867.1:n.754+2T>C
NM_001329939.2:c.754+2T>C (TGFB3) NP_001316868.1:n.754+2T>C
NM_003239.5:c.754+2T>C (TGFB3) MANE Select NP_003230.1:n.754+2T>C