Canonical Allele Identifier: CA017483
Gene: FBN1 HGNC NCBI
MyVariant.info:
GRCh38 chr15:g.48415623G>A
GRCh37 chr15:g.48707820G>A
Revel Score:
ENST00000316623 (MANE Select) 0.326
gnomAD v2:
15:48707820 G / A
gnomAD v3:
15:48415623 G / A
gnomAD v4:
chr15-48415623-G-A
Joint Max Group AF 0.0012677 (SAS)
Genomes Max Group AF 0.00040793 (SAS)
Exomes Max Group AF 0.0012852 (SAS)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48415623G>A , CM000677.2:g.48415623G>A GRCh38
NC_000015.9:g.48707820G>A , CM000677.1:g.48707820G>A GRCh37
NC_000015.8:g.46495112G>A NCBI36
NG_008805.2:g.235166C>T , LRG_778:g.235166C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.*772C>T ENSP00000453958.2:n.*772C>T
ENST00000674301.2:c.*1477C>T ENSP00000501333.2:n.*1477C>T
ENST00000682158.1:n.1345C>T
ENST00000682170.1:n.2145C>T
ENST00000682767.1:n.1261C>T
ENST00000316623.10:c.7964C>T MANE Select ENSP00000325527.5:p.Ala2655Val
ENST00000674301.1:c.3130C>T ENSP00000501333.1:n.3130C>T
ENST00000316623.9:c.7964C>T ENSP00000325527.5:p.Ala2655Val
ENST00000559133.5:c.3333C>T
ENST00000561429.1:n.219C>T
NM_000138.4:c.7964C>T , LRG_778t1:c.7964C>T NP_000129.3:p.Ala2655Val
NM_000138.5:c.7964C>T MANE Select NP_000129.3:p.Ala2655Val
Search 100 bp 5'
Search 100 bp 3'