Canonical Allele Identifier: CA392347946
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 549476
ClinVar RCV Id: RCV000664040
dbSNP Id: rs1555400616

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48520818C>G , CM000677.2:g.48520818C>G GRCh38
NC_000015.9:g.48813015C>G , CM000677.1:g.48813015C>G GRCh37
NC_000015.8:g.46600307C>G NCBI36
NG_008805.2:g.129971G>C , LRG_778:g.129971G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.989-1G>C ENSP00000453958.2:n.989-1G>C
ENST00000674301.2:c.989-1G>C ENSP00000501333.2:n.989-1G>C
ENST00000316623.10:c.989-1G>C MANE Select ENSP00000325527.5:n.989-1G>C
ENST00000316623.9:c.989-1G>C ENSP00000325527.5:n.989-1G>C
ENST00000537463.6:c.636+16893G>C ENSP00000440294.2:n.636+16893G>C
NM_000138.4:c.989-1G>C , LRG_778t1:c.989-1G>C NP_000129.3:n.989-1G>C
NM_000138.5:c.989-1G>C MANE Select NP_000129.3:n.989-1G>C