Canonical Allele Identifier: CA049603

Gene: FBN1

Linked Data

• ClinVar Variation Id: 2075634
• ClinVar RCV Id: RCV002982529 ; RCV004007737
• dbSNP Id: rs778655626
• ExAC: 15:48902969 G / A
• gnomAD v2: 15-48902969-G-A
• gnomAD v3: 15-48610772-G-A
• gnomAD v4: 15-48610772-G-A
• MyVariant Identifiers: chr15:g.48902969G>A (hg19) ; chr15:g.48610772G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48610772G>A , CM000677.2:g.48610772G>A	GRCh38
NC_000015.9:g.48902969G>A , CM000677.1:g.48902969G>A	GRCh37
NC_000015.8:g.46690261G>A	NCBI36
NG_008805.2:g.40017C>T , LRG_778:g.40017C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.302C>T	ENSP00000453958.2:p.Thr101Ile
ENST00000674301.2:c.302C>T	ENSP00000501333.2:p.Thr101Ile
ENST00000316623.10:c.302C>T MANE Select	ENSP00000325527.5:p.Thr101Ile
ENST00000316623.9:c.302C>T	ENSP00000325527.5:p.Thr101Ile
ENST00000537463.6:c.302C>T	ENSP00000440294.2:p.Thr101Ile
NM_000138.4:c.302C>T , LRG_778t1:c.302C>T	NP_000129.3:p.Thr101Ile
NM_000138.5:c.302C>T MANE Select	NP_000129.3:p.Thr101Ile