Canonical Allele Identifier: CA490017133
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 527234
ClinVar RCV Id: RCV000632072
dbSNP Id: rs1555398286
gnomAD v3: 15-48483894-G-A
gnomAD v4: 15-48483894-G-A
COSMIC: COSM4055314
MyVariant Identifiers: chr15:g.48776091G>A (hg19) chr15:g.48483894G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48483894G>A , CM000677.2:g.48483894G>A GRCh38
NC_000015.9:g.48776091G>A , CM000677.1:g.48776091G>A GRCh37
NC_000015.8:g.46563383G>A NCBI36
NG_008805.2:g.166895C>T , LRG_778:g.166895C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.3762C>T ENSP00000453958.2:p.Cys1254=
ENST00000674301.2:c.3762C>T ENSP00000501333.2:p.Cys1254=
ENST00000684448.1:n.2436C>T
ENST00000316623.10:c.3762C>T MANE Select ENSP00000325527.5:p.Cys1254=
ENST00000316623.9:c.3762C>T ENSP00000325527.5:p.Cys1254=
ENST00000537463.6:c.637-9244C>T ENSP00000440294.2:n.637-9244C>T
NM_000138.4:c.3762C>T , LRG_778t1:c.3762C>T NP_000129.3:p.Cys1254=
NM_000138.5:c.3762C>T MANE Select NP_000129.3:p.Cys1254=
Search 100 bp 5'
Search 100 bp 3'