Canonical Allele Identifier: CA016480
Gene: FBN1 HGNC NCBI
MyVariant.info:
GRCh38 chr15:g.48437008C>A
GRCh37 chr15:g.48729205C>A
Revel Score:
ENST00000316623 (MANE Select) 0.851
ENST00000389087 0.851
ENST00000544030 0.851
gnomAD v4:
chr15-48437008-C-A
Joint Max Group AF 2.8e-7 (NFE)
Exomes Max Group AF 3e-7 (NFE)
ClinVar Allele:
197643
ClinVar RCV:
RCV000181568
RCV000796054
RCV001181845
ClinVar Variation:
200085
dbSNP:
794728250
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48437008C>A , CM000677.2:g.48437008C>A GRCh38
NC_000015.9:g.48729205C>A , CM000677.1:g.48729205C>A GRCh37
NC_000015.8:g.46516497C>A NCBI36
NG_008805.2:g.213781G>T , LRG_778:g.213781G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.6449G>T ENSP00000453958.2:p.Arg2150Leu
ENST00000674301.2:c.6449G>T ENSP00000501333.2:p.Arg2150Leu
ENST00000682170.1:n.58G>T
ENST00000316623.10:c.6449G>T MANE Select ENSP00000325527.5:p.Arg2150Leu
ENST00000674301.1:c.1448G>T ENSP00000501333.1:p.Arg483Leu
ENST00000316623.9:c.6449G>T ENSP00000325527.5:p.Arg2150Leu
ENST00000537463.6:c.*2212G>T ENSP00000440294.2:n.*2212G>T
ENST00000559133.5:c.1756G>T
NM_000138.4:c.6449G>T , LRG_778t1:c.6449G>T NP_000129.3:p.Arg2150Leu
NM_000138.5:c.6449G>T MANE Select NP_000129.3:p.Arg2150Leu
Search 100 bp 5'
Search 100 bp 3'