Canonical Allele Identifier: CA1139663926

Gene: FBN1

Linked Data

• ClinVar Variation Id: 954654
• ClinVar RCV Id: RCV001227153
• dbSNP Id: rs2042997205

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48428341C>A , CM000677.2:g.48428341C>A	GRCh38
NC_000015.9:g.48720538C>A , CM000677.1:g.48720538C>A	GRCh37
NC_000015.8:g.46507830C>A	NCBI36
NG_008805.2:g.222448G>T , LRG_778:g.222448G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000559133.6:c.6997+5G>T	ENSP00000453958.2:n.6997+5G>T
ENST00000674301.2:c.*448+5G>T	ENSP00000501333.2:n.*448+5G>T
ENST00000682170.1:n.611G>T
ENST00000682767.1:n.232+5G>T
ENST00000316623.10:c.6997+5G>T MANE Select	ENSP00000325527.5:n.6997+5G>T
ENST00000674301.1:c.2101+5G>T	ENSP00000501333.1:n.2101+5G>T
ENST00000316623.9:c.6997+5G>T	ENSP00000325527.5:n.6997+5G>T
ENST00000559133.5:c.2304+5G>T
ENST00000560720.1:n.289G>T
NM_000138.4:c.6997+5G>T , LRG_778t1:c.6997+5G>T	NP_000129.3:n.6997+5G>T
NM_000138.5:c.6997+5G>T MANE Select	NP_000129.3:n.6997+5G>T