Canonical Allele Identifier: CA016761
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 42410
ClinVar RCV Id: RCV000035255 RCV000470181 RCV000769625 RCV001703453 RCV004528167 RCV003996192
dbSNP Id: rs397515839
ExAC: 15:48722905 G / A
gnomAD v2: 15-48722905-G-A
gnomAD v3: 15-48430708-G-A
gnomAD v4: 15-48430708-G-A
MyVariant Identifiers: chr15:g.48722905G>A (hg19) chr15:g.48430708G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48430708G>A , CM000677.2:g.48430708G>A GRCh38
NC_000015.9:g.48722905G>A , CM000677.1:g.48722905G>A GRCh37
NC_000015.8:g.46510197G>A NCBI36
NG_008805.2:g.220081C>T , LRG_778:g.220081C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.6834C>T ENSP00000453958.2:p.Pro2278=
ENST00000674301.2:c.*285C>T ENSP00000501333.2:n.*285C>T
ENST00000682170.1:n.443C>T
ENST00000316623.10:c.6834C>T MANE Select ENSP00000325527.5:p.Pro2278=
ENST00000674301.1:c.1938C>T ENSP00000501333.1:n.1938C>T
ENST00000316623.9:c.6834C>T ENSP00000325527.5:p.Pro2278=
ENST00000559133.5:c.2141C>T
ENST00000560720.1:n.121C>T
NM_000138.4:c.6834C>T , LRG_778t1:c.6834C>T NP_000129.3:p.Pro2278=
NM_000138.5:c.6834C>T MANE Select NP_000129.3:p.Pro2278=
Search 100 bp 5'
Search 100 bp 3'