Canonical Allele Identifier: CA9150667

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.8072168G>A , CM000681.2:g.8072168G>A GRCh38
NC_000019.9:g.8137052G>A , CM000681.1:g.8137052G>A GRCh37
NC_000019.8:g.8043052G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000600128.6:c.7968C>T (FBN3) MANE Select ENSP00000470498.1:p.Pro2656=
ENST00000651877.1:c.8094C>T (FBN3) ENSP00000498507.1:p.Pro2698=
ENST00000270509.6:c.7968C>T (FBN3) ENSP00000270509.2:p.Pro2656=
ENST00000351593.9:c.-20+77136C>T (ELAVL1) ENSP00000264073.6:n.-20+77136C>T
ENST00000600128.5:c.7968C>T (FBN3) ENSP00000470498.1:p.Pro2656=
ENST00000601739.5:c.7968C>T (FBN3) ENSP00000472324.1:p.Pro2656=
NM_032447.3:c.7968C>T (FBN3) NP_115823.3:p.Pro2656=
XM_011528373.1:c.7968C>T (FBN3) XP_011526675.1:p.Pro2656=
NM_001321431.1:c.7968C>T (FBN3) NP_001308360.1:p.Pro2656=
NM_032447.4:c.7968C>T (FBN3) NP_115823.3:p.Pro2656=
XM_017027372.1:c.7968C>T (FBN3) XP_016882861.1:p.Pro2656=
XM_017027373.1:c.7908C>T (FBN3) XP_016882862.1:p.Pro2636=
XM_017027374.2:c.7872C>T (FBN3) XP_016882863.1:p.Pro2624=
XM_017027375.2:c.7845C>T (FBN3) XP_016882864.1:p.Pro2615=
XM_017027376.1:c.7839C>T (FBN3) XP_016882865.1:p.Pro2613=
XM_017027377.2:c.5385C>T (FBN3) XP_016882866.1:p.Pro1795=
XM_017027378.2:c.4326C>T (FBN3) XP_016882867.1:p.Pro1442=
XM_017027379.1:c.8094C>T (FBN3) XP_016882868.1:p.Pro2698=
NM_032447.5:c.7968C>T (FBN3) MANE Select NP_115823.3:p.Pro2656=
NM_001321431.2:c.7968C>T (FBN3) NP_001308360.1:p.Pro2656=