Canonical Allele Identifier: CA269519045

Gene: FBN1

Linked Data

• ClinVar Variation Id: 1582214
• ClinVar RCV Id: RCV002088827
• dbSNP Id: rs1007432990
• gnomAD v2: 15-48707723-C-A
• gnomAD v4: 15-48415526-C-A
• MyVariant Identifiers: chr15:g.48707723C>A (hg19) ; chr15:g.48415526C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48415526C>A , CM000677.2:g.48415526C>A	GRCh38
NC_000015.9:g.48707723C>A , CM000677.1:g.48707723C>A	GRCh37
NC_000015.8:g.46495015C>A	NCBI36
NG_008805.2:g.235263G>T , LRG_778:g.235263G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*859+10G>T	ENSP00000453958.2:n.*859+10G>T
ENST00000674301.2:c.*1564+10G>T	ENSP00000501333.2:n.*1564+10G>T
ENST00000682158.1:n.1432+10G>T
ENST00000682170.1:n.2232+10G>T
ENST00000682767.1:n.1348+10G>T
ENST00000316623.10:c.8051+10G>T MANE Select	ENSP00000325527.5:n.8051+10G>T
ENST00000674301.1:c.3217+10G>T	ENSP00000501333.1:n.3217+10G>T
ENST00000316623.9:c.8051+10G>T	ENSP00000325527.5:n.8051+10G>T
ENST00000559133.5:c.3420+10G>T
ENST00000561429.1:n.306+10G>T
NM_000138.4:c.8051+10G>T , LRG_778t1:c.8051+10G>T	NP_000129.3:n.8051+10G>T
NM_000138.5:c.8051+10G>T MANE Select	NP_000129.3:n.8051+10G>T