Canonical Allele Identifier: CA203908

Linked Data

ClinVar Variation Id: 203492
dbSNP Id: rs796051886

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.75963455C>G , CM000676.2:g.75963455C>G GRCh38
NC_000014.8:g.76429798C>G , CM000676.1:g.76429798C>G GRCh37
NC_000014.7:g.75499551C>G NCBI36
NG_011715.1:g.23295G>C , LRG_399:g.23295G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000238682.8:c.787G>C (TGFB3) MANE Select ENSP00000238682.3:p.Asp263His
ENST00000556674.2:c.787G>C (TGFB3) ENSP00000502685.1:p.Asp263His
ENST00000238682.7:c.787G>C (TGFB3) ENSP00000238682.3:p.Asp263His
ENST00000554980.5:n.1168G>C (TGFB3)
ENST00000555677.5:n.90-25430C>G (IFT43)
ENST00000556285.1:c.787G>C (TGFB3) ENSP00000451110.1:p.Asp263His
ENST00000557493.1:n.253G>C (TGFB3)
NM_003239.3:c.787G>C (TGFB3) NP_003230.1:p.Asp263His
XM_005268028.1:c.787G>C (TGFB3) XP_005268085.1:p.Asp263His
NM_001329938.1:c.787G>C (TGFB3) NP_001316867.1:p.Asp263His
NM_001329939.1:c.787G>C (TGFB3) NP_001316868.1:p.Asp263His
NM_003239.4:c.787G>C (TGFB3) NP_003230.1:p.Asp263His
NM_001329938.2:c.787G>C (TGFB3) NP_001316867.1:p.Asp263His
NM_001329939.2:c.787G>C (TGFB3) NP_001316868.1:p.Asp263His
NM_003239.5:c.787G>C (TGFB3) MANE Select NP_003230.1:p.Asp263His