Canonical Allele Identifier: CA269528177

Gene: FBN1

Linked Data

• dbSNP Id: rs1020628450
• gnomAD v2: 15-48779082-G-A
• gnomAD v3: 15-48486885-G-A
• gnomAD v4: 15-48486885-G-A
• MyVariant Identifiers: chr15:g.48779082G>A (hg19) ; chr15:g.48486885G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48486885G>A , CM000677.2:g.48486885G>A	GRCh38
NC_000015.9:g.48779082G>A , CM000677.1:g.48779082G>A	GRCh37
NC_000015.8:g.46566374G>A	NCBI36
NG_008805.2:g.163904C>T , LRG_778:g.163904C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.3589+190C>T	ENSP00000453958.2:n.3589+190C>T
ENST00000674301.2:c.3589+190C>T	ENSP00000501333.2:n.3589+190C>T
ENST00000684448.1:n.2263+190C>T
ENST00000316623.10:c.3589+190C>T MANE Select	ENSP00000325527.5:n.3589+190C>T
ENST00000316623.9:c.3589+190C>T	ENSP00000325527.5:n.3589+190C>T
ENST00000537463.6:c.637-12235C>T	ENSP00000440294.2:n.637-12235C>T
NM_000138.4:c.3589+190C>T , LRG_778t1:c.3589+190C>T	NP_000129.3:n.3589+190C>T
NM_000138.5:c.3589+190C>T MANE Select	NP_000129.3:n.3589+190C>T