Canonical Allele Identifier: CA16607090

Gene: FBN1

Linked Data

• ClinVar Variation Id: 381920
• ClinVar RCV Id: RCV000444655 ; RCV000731322 ; RCV001188687 ; RCV002519533
• dbSNP Id: rs1057521207
• gnomAD v4: 15-48456701-A-G
• MyVariant Identifiers: chr15:g.48748898A>G (hg19) ; chr15:g.48456701A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48456701A>G , CM000677.2:g.48456701A>G	GRCh38
NC_000015.9:g.48748898A>G , CM000677.1:g.48748898A>G	GRCh37
NC_000015.8:g.46536190A>G	NCBI36
NG_008805.2:g.194088T>C , LRG_778:g.194088T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.5358T>C	ENSP00000453958.2:p.Val1786=
ENST00000674301.2:c.5358T>C	ENSP00000501333.2:p.Val1786=
ENST00000684448.1:n.4032T>C
ENST00000316623.10:c.5358T>C MANE Select	ENSP00000325527.5:p.Val1786=
ENST00000674301.1:c.357T>C	ENSP00000501333.1:p.Val119=
ENST00000316623.9:c.5358T>C	ENSP00000325527.5:p.Val1786=
ENST00000537463.6:c.*1121T>C	ENSP00000440294.2:n.*1121T>C
ENST00000559133.5:c.665T>C
NM_000138.4:c.5358T>C , LRG_778t1:c.5358T>C	NP_000129.3:p.Val1786=
NM_000138.5:c.5358T>C MANE Select	NP_000129.3:p.Val1786=