Canonical Allele Identifier: CA392344045

Gene: FBN1

Linked Data

• ClinVar Variation Id: 457232
• ClinVar RCV Id: RCV002298644 ; RCV002350188
• dbSNP Id: rs397515823
• gnomAD v3: 15-48452595-C-T
• gnomAD v4: 15-48452595-C-T
• MyVariant Identifiers: chr15:g.48744792C>T (hg19) ; chr15:g.48452595C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48452595C>T , CM000677.2:g.48452595C>T	GRCh38
NC_000015.9:g.48744792C>T , CM000677.1:g.48744792C>T	GRCh37
NC_000015.8:g.46532084C>T	NCBI36
NG_008805.2:g.198194G>A , LRG_778:g.198194G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000559133.6:c.5512G>A	ENSP00000453958.2:p.Gly1838Ser
ENST00000674301.2:c.5512G>A	ENSP00000501333.2:p.Gly1838Ser
ENST00000684448.1:n.4186G>A
ENST00000316623.10:c.5512G>A MANE Select	ENSP00000325527.5:p.Gly1838Ser
ENST00000674301.1:c.511G>A	ENSP00000501333.1:p.Gly171Ser
ENST00000316623.9:c.5512G>A	ENSP00000325527.5:p.Gly1838Ser
ENST00000537463.6:c.*1275G>A	ENSP00000440294.2:n.*1275G>A
ENST00000559133.5:c.819G>A
NM_000138.4:c.5512G>A , LRG_778t1:c.5512G>A	NP_000129.3:p.Gly1838Ser
NM_000138.5:c.5512G>A MANE Select	NP_000129.3:p.Gly1838Ser