Canonical Allele Identifier: CA017196

Gene: FBN1

Linked Data

• ClinVar Variation Id: 36115
• ClinVar RCV Id: RCV000029777 ; RCV000181602 ; RCV000474840 ; RCV000766959 ; RCV002504828
• dbSNP Id: rs193922233
• ExAC: 15:48717607 G / C
• gnomAD v2: 15-48717607-G-C
• gnomAD v3: 15-48425410-G-C
• gnomAD v4: 15-48425410-G-C
• MyVariant Identifiers: chr15:g.48717607G>C (hg19) ; chr15:g.48425410G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48425410G>C , CM000677.2:g.48425410G>C	GRCh38
NC_000015.9:g.48717607G>C , CM000677.1:g.48717607G>C	GRCh37
NC_000015.8:g.46504899G>C	NCBI36
NG_008805.2:g.225379C>G , LRG_778:g.225379C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*220C>G	ENSP00000453958.2:n.*220C>G
ENST00000674301.2:c.*925C>G	ENSP00000501333.2:n.*925C>G
ENST00000682170.1:n.1593C>G
ENST00000682767.1:n.709C>G
ENST00000316623.10:c.7412C>G MANE Select	ENSP00000325527.5:p.Pro2471Arg
ENST00000674301.1:c.2578C>G	ENSP00000501333.1:n.2578C>G
ENST00000316623.9:c.7412C>G	ENSP00000325527.5:p.Pro2471Arg
ENST00000559133.5:c.2781C>G
NM_000138.4:c.7412C>G , LRG_778t1:c.7412C>G	NP_000129.3:p.Pro2471Arg
NM_000138.5:c.7412C>G MANE Select	NP_000129.3:p.Pro2471Arg