Canonical Allele Identifier: CA046387
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 255286
dbSNP Id: rs25459

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48504995C>T , CM000677.2:g.48504995C>T GRCh38
NC_000015.9:g.48797192C>T , CM000677.1:g.48797192C>T GRCh37
NC_000015.8:g.46584484C>T NCBI36
NG_008805.2:g.145794G>A , LRG_778:g.145794G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000316623.10:c.1960+30G>A MANE Select ENSP00000325527.5:p.=
ENST00000316623.9:c.1960+30G>A ENSP00000325527.5:p.=
ENST00000537463.6:c.637-30345G>A ENSP00000440294.2:p.=
NM_000138.4:c.1960+30G>A , LRG_778t1:c.1960+30G>A NP_000129.3:p.=
NM_000138.5:c.1960+30G>A MANE Select NP_000129.3:p.=