Canonical Allele Identifier: CA392352974

Gene: FBN1

Linked Data

• ClinVar Variation Id: 1067526
• ClinVar RCV Id: RCV001378820
• dbSNP Id: rs2141272349
• MyVariant Identifiers: chr15:g.48760197C>A (hg19) ; chr15:g.48468000C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48468000C>A , CM000677.2:g.48468000C>A	GRCh38
NC_000015.9:g.48760197C>A , CM000677.1:g.48760197C>A	GRCh37
NC_000015.8:g.46547489C>A	NCBI36
NG_008805.2:g.182789G>T , LRG_778:g.182789G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.4685G>T	ENSP00000453958.2:p.Cys1562Phe
ENST00000674301.2:c.4685G>T	ENSP00000501333.2:p.Cys1562Phe
ENST00000684448.1:n.3359G>T
ENST00000316623.10:c.4685G>T MANE Select	ENSP00000325527.5:p.Cys1562Phe
ENST00000316623.9:c.4685G>T	ENSP00000325527.5:p.Cys1562Phe
ENST00000537463.6:c.*448G>T	ENSP00000440294.2:n.*448G>T
NM_000138.4:c.4685G>T , LRG_778t1:c.4685G>T	NP_000129.3:p.Cys1562Phe
NM_000138.5:c.4685G>T MANE Select	NP_000129.3:p.Cys1562Phe