Canonical Allele Identifier: CA392323827

Gene: FBN1

Linked Data

• ClinVar Variation Id: 2949946
• ClinVar RCV Id: RCV003807304
• gnomAD v4: 15-48483868-C-A
• MyVariant Identifiers: chr15:g.48776065C>A (hg19) ; chr15:g.48483868C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48483868C>A , CM000677.2:g.48483868C>A	GRCh38
NC_000015.9:g.48776065C>A , CM000677.1:g.48776065C>A	GRCh37
NC_000015.8:g.46563357C>A	NCBI36
NG_008805.2:g.166921G>T , LRG_778:g.166921G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000559133.6:c.3788G>T	ENSP00000453958.2:p.Cys1263Phe
ENST00000674301.2:c.3788G>T	ENSP00000501333.2:p.Cys1263Phe
ENST00000684448.1:n.2462G>T
ENST00000316623.10:c.3788G>T MANE Select	ENSP00000325527.5:p.Cys1263Phe
ENST00000316623.9:c.3788G>T	ENSP00000325527.5:p.Cys1263Phe
ENST00000537463.6:c.637-9218G>T	ENSP00000440294.2:n.637-9218G>T
NM_000138.4:c.3788G>T , LRG_778t1:c.3788G>T	NP_000129.3:p.Cys1263Phe
NM_000138.5:c.3788G>T MANE Select	NP_000129.3:p.Cys1263Phe