Canonical Allele Identifier: CA16614801

Gene: FBN1

Linked Data

• ClinVar Variation Id: 406305
• ClinVar RCV Id: RCV000461188 ; RCV000489993
• dbSNP Id: rs1060501046
• gnomAD v4: 15-48441744-G-A
• MyVariant Identifiers: chr15:g.48733941G>A (hg19) ; chr15:g.48441744G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48441744G>A , CM000677.2:g.48441744G>A	GRCh38
NC_000015.9:g.48733941G>A , CM000677.1:g.48733941G>A	GRCh37
NC_000015.8:g.46521233G>A	NCBI36
NG_008805.2:g.209045C>T , LRG_778:g.209045C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.6140C>T	ENSP00000453958.2:p.Ser2047Phe
ENST00000674301.2:c.6140C>T	ENSP00000501333.2:p.Ser2047Phe
ENST00000316623.10:c.6140C>T MANE Select	ENSP00000325527.5:p.Ser2047Phe
ENST00000674301.1:c.1139C>T	ENSP00000501333.1:p.Ser380Phe
ENST00000316623.9:c.6140C>T	ENSP00000325527.5:p.Ser2047Phe
ENST00000537463.6:c.*1903C>T	ENSP00000440294.2:n.*1903C>T
ENST00000559133.5:c.1447C>T
ENST00000560820.1:n.260C>T
NM_000138.4:c.6140C>T , LRG_778t1:c.6140C>T	NP_000129.3:p.Ser2047Phe
NM_000138.5:c.6140C>T MANE Select	NP_000129.3:p.Ser2047Phe