Canonical Allele Identifier: CA9150850

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.8075368G>A , CM000681.2:g.8075368G>A GRCh38
NC_000019.9:g.8140252G>A , CM000681.1:g.8140252G>A GRCh37
NC_000019.8:g.8046252G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000600128.6:c.7497C>T (FBN3) MANE Select ENSP00000470498.1:p.His2499=
ENST00000651877.1:c.7623C>T (FBN3) ENSP00000498507.1:p.His2541=
ENST00000270509.6:c.7497C>T (FBN3) ENSP00000270509.2:p.His2499=
ENST00000351593.9:c.-20+73936C>T (ELAVL1) ENSP00000264073.6:n.-20+73936C>T
ENST00000595036.1:n.55-178C>T (FBN3)
ENST00000600128.5:c.7497C>T (FBN3) ENSP00000470498.1:p.His2499=
ENST00000601739.5:c.7497C>T (FBN3) ENSP00000472324.1:p.His2499=
NM_032447.3:c.7497C>T (FBN3) NP_115823.3:p.His2499=
XM_011528373.1:c.7497C>T (FBN3) XP_011526675.1:p.His2499=
NM_001321431.1:c.7497C>T (FBN3) NP_001308360.1:p.His2499=
NM_032447.4:c.7497C>T (FBN3) NP_115823.3:p.His2499=
XM_017027372.1:c.7497C>T (FBN3) XP_016882861.1:p.His2499=
XM_017027373.1:c.7437C>T (FBN3) XP_016882862.1:p.His2479=
XM_017027374.2:c.7401C>T (FBN3) XP_016882863.1:p.His2467=
XM_017027375.2:c.7374C>T (FBN3) XP_016882864.1:p.His2458=
XM_017027376.1:c.7368C>T (FBN3) XP_016882865.1:p.His2456=
XM_017027377.2:c.4914C>T (FBN3) XP_016882866.1:p.His1638=
XM_017027378.2:c.3855C>T (FBN3) XP_016882867.1:p.His1285=
XM_017027379.1:c.7623C>T (FBN3) XP_016882868.1:p.His2541=
NM_032447.5:c.7497C>T (FBN3) MANE Select NP_115823.3:p.His2499=
NM_001321431.2:c.7497C>T (FBN3) NP_001308360.1:p.His2499=