Canonical Allele Identifier: CA490028706
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 919443
ClinVar RCV Id: RCV001177650 RCV003769910
dbSNP Id: rs1398534692
gnomAD v2: 15-48826383-G-A
gnomAD v3: 15-48534186-G-A
gnomAD v4: 15-48534186-G-A
MyVariant Identifiers: chr15:g.48826383G>A (hg19) chr15:g.48534186G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48534186G>A , CM000677.2:g.48534186G>A GRCh38
NC_000015.9:g.48826383G>A , CM000677.1:g.48826383G>A GRCh37
NC_000015.8:g.46613675G>A NCBI36
NG_008805.2:g.116603C>T , LRG_778:g.116603C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000559133.6:c.756C>T ENSP00000453958.2:p.Ala252=
ENST00000674301.2:c.756C>T ENSP00000501333.2:p.Ala252=
ENST00000316623.10:c.756C>T MANE Select ENSP00000325527.5:p.Ala252=
ENST00000316623.9:c.756C>T ENSP00000325527.5:p.Ala252=
ENST00000537463.6:c.636+3525C>T ENSP00000440294.2:n.636+3525C>T
NM_000138.4:c.756C>T , LRG_778t1:c.756C>T NP_000129.3:p.Ala252=
NM_000138.5:c.756C>T MANE Select NP_000129.3:p.Ala252=
Search 100 bp 5'
Search 100 bp 3'