Canonical Allele Identifier: CA392329497
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 457185
ClinVar RCV Id: RCV000524595
dbSNP Id: rs794728199

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48489980C>A , CM000677.2:g.48489980C>A GRCh38
NC_000015.9:g.48782177C>A , CM000677.1:g.48782177C>A GRCh37
NC_000015.8:g.46569469C>A NCBI36
NG_008805.2:g.160809G>T , LRG_778:g.160809G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.2953G>T ENSP00000453958.2:p.Gly985Trp
ENST00000674301.2:c.2953G>T ENSP00000501333.2:p.Gly985Trp
ENST00000684448.1:n.1627G>T
ENST00000316623.10:c.2953G>T MANE Select ENSP00000325527.5:p.Gly985Trp
ENST00000316623.9:c.2953G>T ENSP00000325527.5:p.Gly985Trp
ENST00000537463.6:c.637-15330G>T ENSP00000440294.2:n.637-15330G>T
NM_000138.4:c.2953G>T , LRG_778t1:c.2953G>T NP_000129.3:p.Gly985Trp
NM_000138.5:c.2953G>T MANE Select NP_000129.3:p.Gly985Trp