Canonical Allele Identifier: CA269519984

Gene: FBN1

Linked Data

• dbSNP Id: rs986404822
• gnomAD v2: 15-48714596-G-A
• gnomAD v3: 15-48422399-G-A
• gnomAD v4: 15-48422399-G-A
• MyVariant Identifiers: chr15:g.48714596G>A (hg19) ; chr15:g.48422399G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48422399G>A , CM000677.2:g.48422399G>A	GRCh38
NC_000015.9:g.48714596G>A , CM000677.1:g.48714596G>A	GRCh37
NC_000015.8:g.46501888G>A	NCBI36
NG_008805.2:g.228390C>T , LRG_778:g.228390C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*262-331C>T	ENSP00000453958.2:n.*262-331C>T
ENST00000674301.2:c.*967-331C>T	ENSP00000501333.2:n.*967-331C>T
ENST00000682170.1:n.1635-331C>T
ENST00000682767.1:n.751-331C>T
ENST00000316623.10:c.7454-331C>T MANE Select	ENSP00000325527.5:n.7454-331C>T
ENST00000674301.1:c.2620-331C>T	ENSP00000501333.1:n.2620-331C>T
ENST00000316623.9:c.7454-331C>T	ENSP00000325527.5:n.7454-331C>T
ENST00000559133.5:c.2823-331C>T
NM_000138.4:c.7454-331C>T , LRG_778t1:c.7454-331C>T	NP_000129.3:n.7454-331C>T
NM_000138.5:c.7454-331C>T MANE Select	NP_000129.3:n.7454-331C>T