Canonical Allele Identifier: CA045360

Gene: FBN1

Linked Data

• ClinVar Variation Id: 519778
• ClinVar RCV Id: RCV001320564 ; RCV001189727 ; RCV004002728
• dbSNP Id: rs759813328
• ExAC: 15:48802316 T / C
• gnomAD v2: 15-48802316-T-C
• gnomAD v4: 15-48510119-T-C
• MyVariant Identifiers: chr15:g.48802316T>C (hg19) ; chr15:g.48510119T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48510119T>C , CM000677.2:g.48510119T>C	GRCh38
NC_000015.9:g.48802316T>C , CM000677.1:g.48802316T>C	GRCh37
NC_000015.8:g.46589608T>C	NCBI36
NG_008805.2:g.140670A>G , LRG_778:g.140670A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.1639A>G	ENSP00000453958.2:p.Ile547Val
ENST00000674301.2:c.1639A>G	ENSP00000501333.2:p.Ile547Val
ENST00000684448.1:n.313A>G
ENST00000316623.10:c.1639A>G MANE Select	ENSP00000325527.5:p.Ile547Val
ENST00000316623.9:c.1639A>G	ENSP00000325527.5:p.Ile547Val
ENST00000537463.6:c.636+27592A>G	ENSP00000440294.2:n.636+27592A>G
NM_000138.4:c.1639A>G , LRG_778t1:c.1639A>G	NP_000129.3:p.Ile547Val
NM_000138.5:c.1639A>G MANE Select	NP_000129.3:p.Ile547Val