Canonical Allele Identifier: CA2628324836
Gene: FBN1 HGNC NCBI

Linked Data

gnomAD v4: 15-48410673-C-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48410673C>T , CM000677.2:g.48410673C>T GRCh38
NC_000015.9:g.48702870C>T , CM000677.1:g.48702870C>T GRCh37
NC_000015.8:g.46490162C>T NCBI36
NG_008805.2:g.240116G>A , LRG_778:g.240116G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.*1741G>A ENSP00000453958.2:n.*1741G>A
ENST00000682158.1:n.2314G>A
ENST00000682170.1:n.3114G>A
ENST00000682767.1:n.2230G>A
ENST00000316623.10:c.*317G>A MANE Select ENSP00000325527.5:n.*317G>A
ENST00000316623.9:c.*317G>A ENSP00000325527.5:n.*317G>A
ENST00000559133.5:c.4302G>A
NM_000138.4:c.*317G>A , LRG_778t1:c.*317G>A NP_000129.3:n.*317G>A
NM_000138.5:c.*317G>A MANE Select NP_000129.3:n.*317G>A
Search 100 bp 5'
Search 100 bp 3'