Canonical Allele Identifier: CA012647

Gene: FBN1

Linked Data

• ClinVar Variation Id: 163480
• ClinVar RCV Id: RCV000150704 ; RCV000524497 ; RCV000767974 ; RCV001526942 ; RCV001798467 ; RCV001556720
• dbSNP Id: rs727503057
• gnomAD v3: 15-48505106-G-A
• gnomAD v4: 15-48505106-G-A
• COSMIC: COSM260888
• MyVariant Identifiers: chr15:g.48797303G>A (hg19) ; chr15:g.48505106G>A (hg38)
• PubMed: PMID:8004112 ; PMID:12161601 ; PMID:16220557 ; PMID:17418587 ; PMID:17503327 ; PMID:17679947 ; PMID:19293843 ; PMID:21784848 ; PMID:23684891 ; PMID:24941995

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48505106G>A , CM000677.2:g.48505106G>A	GRCh38
NC_000015.9:g.48797303G>A , CM000677.1:g.48797303G>A	GRCh37
NC_000015.8:g.46584595G>A	NCBI36
NG_008805.2:g.145683C>T , LRG_778:g.145683C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.1879C>T	ENSP00000453958.2:p.Arg627Cys
ENST00000674301.2:c.1879C>T	ENSP00000501333.2:p.Arg627Cys
ENST00000684448.1:n.553C>T
ENST00000316623.10:c.1879C>T MANE Select	ENSP00000325527.5:p.Arg627Cys
ENST00000316623.9:c.1879C>T	ENSP00000325527.5:p.Arg627Cys
ENST00000537463.6:c.637-30456C>T	ENSP00000440294.2:n.637-30456C>T
NM_000138.4:c.1879C>T , LRG_778t1:c.1879C>T	NP_000129.3:p.Arg627Cys
NM_000138.5:c.1879C>T MANE Select	NP_000129.3:p.Arg627Cys