Canonical Allele Identifier: CA2628331578

Gene: FBN1

Linked Data

• gnomAD v4: 15-48430580-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48430580G>T , CM000677.2:g.48430580G>T	GRCh38
NC_000015.9:g.48722777G>T , CM000677.1:g.48722777G>T	GRCh37
NC_000015.8:g.46510069G>T	NCBI36
NG_008805.2:g.220209C>A , LRG_778:g.220209C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.6871+91C>A	ENSP00000453958.2:n.6871+91C>A
ENST00000674301.2:c.*322+91C>A	ENSP00000501333.2:n.*322+91C>A
ENST00000682170.1:n.480+91C>A
ENST00000316623.10:c.6871+91C>A MANE Select	ENSP00000325527.5:n.6871+91C>A
ENST00000674301.1:c.1975+91C>A	ENSP00000501333.1:n.1975+91C>A
ENST00000316623.9:c.6871+91C>A	ENSP00000325527.5:n.6871+91C>A
ENST00000559133.5:c.2178+91C>A
ENST00000560720.1:n.158+91C>A
NM_000138.4:c.6871+91C>A , LRG_778t1:c.6871+91C>A	NP_000129.3:n.6871+91C>A
NM_000138.5:c.6871+91C>A MANE Select	NP_000129.3:n.6871+91C>A