Canonical Allele Identifier: CA045628

Gene: FBN1

Linked Data

• ClinVar Variation Id: 457165
• ClinVar RCV Id: RCV000541290 ; RCV001797747 ; RCV001183479 ; RCV001824327 ; RCV004003780
• dbSNP Id: rs761662654
• ExAC: 15:48802287 C / T
• gnomAD v2: 15-48802287-C-T
• gnomAD v3: 15-48510090-C-T
• gnomAD v4: 15-48510090-C-T
• MyVariant Identifiers: chr15:g.48802287C>T (hg19) ; chr15:g.48510090C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48510090C>T , CM000677.2:g.48510090C>T	GRCh38
NC_000015.9:g.48802287C>T , CM000677.1:g.48802287C>T	GRCh37
NC_000015.8:g.46589579C>T	NCBI36
NG_008805.2:g.140699G>A , LRG_778:g.140699G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.1668G>A	ENSP00000453958.2:p.Val556=
ENST00000674301.2:c.1668G>A	ENSP00000501333.2:p.Val556=
ENST00000684448.1:n.342G>A
ENST00000316623.10:c.1668G>A MANE Select	ENSP00000325527.5:p.Val556=
ENST00000316623.9:c.1668G>A	ENSP00000325527.5:p.Val556=
ENST00000537463.6:c.636+27621G>A	ENSP00000440294.2:n.636+27621G>A
NM_000138.4:c.1668G>A , LRG_778t1:c.1668G>A	NP_000129.3:p.Val556=
NM_000138.5:c.1668G>A MANE Select	NP_000129.3:p.Val556=