Canonical Allele Identifier: CA054359

Gene: FBN1

Linked Data

• ClinVar Variation Id: 237096
• ClinVar RCV Id: RCV000229864 ; RCV000663764 ; RCV001189722 ; RCV001572135 ; RCV003155134
• dbSNP Id: rs368287795
• ExAC: 15:48755361 C / T
• gnomAD v2: 15-48755361-C-T
• gnomAD v3: 15-48463164-C-T
• gnomAD v4: 15-48463164-C-T
• MyVariant Identifiers: chr15:g.48755361C>T (hg19) ; chr15:g.48463164C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48463164C>T , CM000677.2:g.48463164C>T	GRCh38
NC_000015.9:g.48755361C>T , CM000677.1:g.48755361C>T	GRCh37
NC_000015.8:g.46542653C>T	NCBI36
NG_008805.2:g.187625G>A , LRG_778:g.187625G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.5142G>A	ENSP00000453958.2:p.Met1714Ile
ENST00000674301.2:c.5142G>A	ENSP00000501333.2:p.Met1714Ile
ENST00000684448.1:n.3816G>A
ENST00000316623.10:c.5142G>A MANE Select	ENSP00000325527.5:p.Met1714Ile
ENST00000674301.1:c.141G>A	ENSP00000501333.1:p.Met47Ile
ENST00000316623.9:c.5142G>A	ENSP00000325527.5:p.Met1714Ile
ENST00000537463.6:c.*905G>A	ENSP00000440294.2:n.*905G>A
ENST00000559133.5:c.449G>A
NM_000138.4:c.5142G>A , LRG_778t1:c.5142G>A	NP_000129.3:p.Met1714Ile
NM_000138.5:c.5142G>A MANE Select	NP_000129.3:p.Met1714Ile