Canonical Allele Identifier: CA490022250

Gene: FBN1

Linked Data

• dbSNP Id: rs1473366497
• gnomAD v3: 15-48445383-G-A
• gnomAD v4: 15-48445383-G-A
• MyVariant Identifiers: chr15:g.48737580G>A (hg19) ; chr15:g.48445383G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48445383G>A , CM000677.2:g.48445383G>A	GRCh38
NC_000015.9:g.48737580G>A , CM000677.1:g.48737580G>A	GRCh37
NC_000015.8:g.46524872G>A	NCBI36
NG_008805.2:g.205406C>T , LRG_778:g.205406C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000559133.6:c.5910C>T	ENSP00000453958.2:p.Thr1970=
ENST00000674301.2:c.5910C>T	ENSP00000501333.2:p.Thr1970=
ENST00000684448.1:n.4584C>T
ENST00000316623.10:c.5910C>T MANE Select	ENSP00000325527.5:p.Thr1970=
ENST00000674301.1:c.909C>T	ENSP00000501333.1:p.Thr303=
ENST00000316623.9:c.5910C>T	ENSP00000325527.5:p.Thr1970=
ENST00000537463.6:c.*1673C>T	ENSP00000440294.2:n.*1673C>T
ENST00000559133.5:c.1217C>T
ENST00000560820.1:n.30C>T
NM_000138.4:c.5910C>T , LRG_778t1:c.5910C>T	NP_000129.3:p.Thr1970=
NM_000138.5:c.5910C>T MANE Select	NP_000129.3:p.Thr1970=