Canonical Allele Identifier: CA392320860

Gene: FBN1

Linked Data

• ClinVar Variation Id: 925919
• ClinVar RCV Id: RCV001188167 ; RCV004010265
• dbSNP Id: rs2042872481
• gnomAD v4: 15-48412615-C-T
• MyVariant Identifiers: chr15:g.48704812C>T (hg19) ; chr15:g.48412615C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48412615C>T , CM000677.2:g.48412615C>T	GRCh38
NC_000015.9:g.48704812C>T , CM000677.1:g.48704812C>T	GRCh37
NC_000015.8:g.46492104C>T	NCBI36
NG_008805.2:g.238174G>A , LRG_778:g.238174G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*988G>A	ENSP00000453958.2:n.*988G>A
ENST00000674301.2:c.*1693G>A	ENSP00000501333.2:n.*1693G>A
ENST00000682158.1:n.1561G>A
ENST00000682170.1:n.2361G>A
ENST00000682767.1:n.1477G>A
ENST00000316623.10:c.8180G>A MANE Select	ENSP00000325527.5:p.Gly2727Asp
ENST00000674301.1:c.3346G>A	ENSP00000501333.1:n.3346G>A
ENST00000316623.9:c.8180G>A	ENSP00000325527.5:p.Gly2727Asp
ENST00000559133.5:c.3549G>A
ENST00000561429.1:n.435G>A
NM_000138.4:c.8180G>A , LRG_778t1:c.8180G>A	NP_000129.3:p.Gly2727Asp
NM_000138.5:c.8180G>A MANE Select	NP_000129.3:p.Gly2727Asp