Canonical Allele Identifier: CA2175520998
Gene: FBN1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48489618C= , CM000677.2:g.48489618C= GRCh38
NC_000015.9:g.48781815C= , CM000677.1:g.48781815C= GRCh37
NC_000015.8:g.46569107C= NCBI36
NG_008805.2:g.161171G= , LRG_778:g.161171G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.3082+233G= ENSP00000453958.2:n.3082+233G=
ENST00000674301.2:c.3082+233G= ENSP00000501333.2:n.3082+233G=
ENST00000684448.1:n.1756+233G=
ENST00000316623.10:c.3082+233G= MANE Select ENSP00000325527.5:n.3082+233G=
ENST00000316623.9:c.3082+233G= ENSP00000325527.5:n.3082+233G=
ENST00000537463.6:c.637-14968G= ENSP00000440294.2:n.637-14968G=
NM_000138.4:c.3082+233G= , LRG_778t1:c.3082+233G= NP_000129.3:n.3082+233G=
NM_000138.5:c.3082+233G= MANE Select NP_000129.3:n.3082+233G=