Canonical Allele Identifier: CA2175498736
Gene: FBN1 HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48428570C= , CM000677.2:g.48428570C= GRCh38
NC_000015.9:g.48720767C= , CM000677.1:g.48720767C= GRCh37
NC_000015.8:g.46508059C= NCBI36
NG_008805.2:g.222219G= , LRG_778:g.222219G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.6872-99G= ENSP00000453958.2:n.6872-99G=
ENST00000674301.2:c.*323-99G= ENSP00000501333.2:n.*323-99G=
ENST00000682170.1:n.481-99G=
ENST00000682767.1:n.8G=
ENST00000316623.10:c.6872-99G= MANE Select ENSP00000325527.5:n.6872-99G=
ENST00000674301.1:c.1976-99G= ENSP00000501333.1:n.1976-99G=
ENST00000316623.9:c.6872-99G= ENSP00000325527.5:n.6872-99G=
ENST00000559133.5:c.2179-99G=
ENST00000560720.1:n.159-99G=
NM_000138.4:c.6872-99G= , LRG_778t1:c.6872-99G= NP_000129.3:n.6872-99G=
NM_000138.5:c.6872-99G= MANE Select NP_000129.3:n.6872-99G=
Search 100 bp 5'
Search 100 bp 3'