Canonical Allele Identifier: CA2175484548
Gene: FBN1 HGNC NCBI

Linked Data

dbSNP Id: rs2042840611
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48409084T>A , CM000677.2:g.48409084T>A GRCh38
NC_000015.9:g.48701281T>A , CM000677.1:g.48701281T>A GRCh37
NC_000015.8:g.46488573T>A NCBI36
NG_008805.2:g.241705A>T , LRG_778:g.241705A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000682170.1:n.4703A>T
ENST00000682767.1:n.3819A>T
ENST00000316623.10:c.*1906A>T MANE Select ENSP00000325527.5:n.*1906A>T
ENST00000316623.9:c.*1906A>T ENSP00000325527.5:n.*1906A>T
NM_000138.4:c.*1906A>T , LRG_778t1:c.*1906A>T NP_000129.3:n.*1906A>T
NM_000138.5:c.*1906A>T MANE Select NP_000129.3:n.*1906A>T
Search 100 bp 5'
Search 100 bp 3'