Canonical Allele Identifier: CA2175525976
Gene: FBN1 HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48494099C= , CM000677.2:g.48494099C= GRCh38
NC_000015.9:g.48786296C= , CM000677.1:g.48786296C= GRCh37
NC_000015.8:g.46573588C= NCBI36
NG_008805.2:g.156690G= , LRG_778:g.156690G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.2728+105G= ENSP00000453958.2:n.2728+105G=
ENST00000674301.2:c.2728+105G= ENSP00000501333.2:n.2728+105G=
ENST00000684448.1:n.1402+105G=
ENST00000316623.10:c.2728+105G= MANE Select ENSP00000325527.5:n.2728+105G=
ENST00000316623.9:c.2728+105G= ENSP00000325527.5:n.2728+105G=
ENST00000537463.6:c.637-19449G= ENSP00000440294.2:n.637-19449G=
NM_000138.4:c.2728+105G= , LRG_778t1:c.2728+105G= NP_000129.3:n.2728+105G=
NM_000138.5:c.2728+105G= MANE Select NP_000129.3:n.2728+105G=
Search 100 bp 5'
Search 100 bp 3'