Canonical Allele Identifier: CA392338954

Gene: FBN1

Linked Data

• ClinVar Variation Id: 2137706
• ClinVar RCV Id: RCV003064276
• MyVariant Identifiers: chr15:g.48797222C>T (hg19) ; chr15:g.48505025C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48505025C>T , CM000677.2:g.48505025C>T	GRCh38
NC_000015.9:g.48797222C>T , CM000677.1:g.48797222C>T	GRCh37
NC_000015.8:g.46584514C>T	NCBI36
NG_008805.2:g.145764G>A , LRG_778:g.145764G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000559133.6:c.1960G>A	ENSP00000453958.2:p.Asp654Asn
ENST00000674301.2:c.1960G>A	ENSP00000501333.2:p.Asp654Asn
ENST00000684448.1:n.634G>A
ENST00000316623.10:c.1960G>A MANE Select	ENSP00000325527.5:p.Asp654Asn
ENST00000316623.9:c.1960G>A	ENSP00000325527.5:p.Asp654Asn
ENST00000537463.6:c.637-30375G>A	ENSP00000440294.2:n.637-30375G>A
NM_000138.4:c.1960G>A , LRG_778t1:c.1960G>A	NP_000129.3:p.Asp654Asn
NM_000138.5:c.1960G>A MANE Select	NP_000129.3:p.Asp654Asn