Canonical Allele Identifier: CA016230
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 36097
ClinVar RCV Id: RCV000029759 RCV000125014 RCV000769631 RCV000755532 RCV004541021
dbSNP Id: rs113577372
ExAC: 15:48734008 C / A
gnomAD v2: 15-48734008-C-A
gnomAD v3: 15-48441811-C-A
gnomAD v4: 15-48441811-C-A
MyVariant Identifiers: chr15:g.48734008C>A (hg19) chr15:g.48441811C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48441811C>A , CM000677.2:g.48441811C>A GRCh38
NC_000015.9:g.48734008C>A , CM000677.1:g.48734008C>A GRCh37
NC_000015.8:g.46521300C>A NCBI36
NG_008805.2:g.208978G>T , LRG_778:g.208978G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.6073G>T ENSP00000453958.2:p.Ala2025Ser
ENST00000674301.2:c.6073G>T ENSP00000501333.2:p.Ala2025Ser
ENST00000316623.10:c.6073G>T MANE Select ENSP00000325527.5:p.Ala2025Ser
ENST00000674301.1:c.1072G>T ENSP00000501333.1:p.Ala358Ser
ENST00000316623.9:c.6073G>T ENSP00000325527.5:p.Ala2025Ser
ENST00000537463.6:c.*1836G>T ENSP00000440294.2:n.*1836G>T
ENST00000559133.5:c.1380G>T
ENST00000560820.1:n.193G>T
NM_000138.4:c.6073G>T , LRG_778t1:c.6073G>T NP_000129.3:p.Ala2025Ser
NM_000138.5:c.6073G>T MANE Select NP_000129.3:p.Ala2025Ser
Search 100 bp 5'
Search 100 bp 3'