Canonical Allele Identifier: CA269518331
Gene: FBN1 HGNC NCBI

Linked Data

dbSNP Id: rs533312404
gnomAD v3: 15-48408540-G-A
gnomAD v4: 15-48408540-G-A
MyVariant Identifiers: chr15:g.48700737G>A (hg19) chr15:g.48408540G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48408540G>A , CM000677.2:g.48408540G>A GRCh38
NC_000015.9:g.48700737G>A , CM000677.1:g.48700737G>A GRCh37
NC_000015.8:g.46488029G>A NCBI36
NG_008805.2:g.242249C>T , LRG_778:g.242249C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000682170.1:n.5247C>T
ENST00000682767.1:n.4363C>T
ENST00000316623.10:c.*2450C>T MANE Select ENSP00000325527.5:n.*2450C>T
ENST00000316623.9:c.*2450C>T ENSP00000325527.5:n.*2450C>T
NM_000138.4:c.*2450C>T , LRG_778t1:c.*2450C>T NP_000129.3:n.*2450C>T
NM_000138.5:c.*2450C>T MANE Select NP_000129.3:n.*2450C>T
Search 100 bp 5'
Search 100 bp 3'