Canonical Allele Identifier: CA048013

Gene: FBN1

Linked Data

• ClinVar Variation Id: 406321
• ClinVar RCV Id: RCV000474691 ; RCV000663552 ; RCV000769647 ; RCV000780241 ; RCV002056710
• dbSNP Id: rs778258207
• ExAC: 15:48787450 G / C
• gnomAD v2: 15-48787450-G-C
• gnomAD v3: 15-48495253-G-C
• gnomAD v4: 15-48495253-G-C
• MyVariant Identifiers: chr15:g.48787450G>C (hg19) ; chr15:g.48495253G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48495253G>C , CM000677.2:g.48495253G>C	GRCh38
NC_000015.9:g.48787450G>C , CM000677.1:g.48787450G>C	GRCh37
NC_000015.8:g.46574742G>C	NCBI36
NG_008805.2:g.155536C>G , LRG_778:g.155536C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.2547C>G	ENSP00000453958.2:p.Ile849Met
ENST00000674301.2:c.2547C>G	ENSP00000501333.2:p.Ile849Met
ENST00000684448.1:n.1221C>G
ENST00000316623.10:c.2547C>G MANE Select	ENSP00000325527.5:p.Ile849Met
ENST00000316623.9:c.2547C>G	ENSP00000325527.5:p.Ile849Met
ENST00000537463.6:c.637-20603C>G	ENSP00000440294.2:n.637-20603C>G
NM_000138.4:c.2547C>G , LRG_778t1:c.2547C>G	NP_000129.3:p.Ile849Met
NM_000138.5:c.2547C>G MANE Select	NP_000129.3:p.Ile849Met