Canonical Allele Identifier: CA014788

Gene: FBN1

Linked Data

• ClinVar Variation Id: 200038
• ClinVar RCV Id: RCV001170774 ; RCV001341819 ; RCV001704866 ; RCV002485194
• dbSNP Id: rs775543440
• ExAC: 15:48766512 T / C
• gnomAD v2: 15-48766512-T-C
• gnomAD v3: 15-48474315-T-C
• gnomAD v4: 15-48474315-T-C
• MyVariant Identifiers: chr15:g.48766512T>C (hg19) ; chr15:g.48474315T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48474315T>C , CM000677.2:g.48474315T>C	GRCh38
NC_000015.9:g.48766512T>C , CM000677.1:g.48766512T>C	GRCh37
NC_000015.8:g.46553804T>C	NCBI36
NG_008805.2:g.176474A>G , LRG_778:g.176474A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000559133.6:c.4150A>G	ENSP00000453958.2:p.Met1384Val
ENST00000674301.2:c.4150A>G	ENSP00000501333.2:p.Met1384Val
ENST00000684448.1:n.2824A>G
ENST00000316623.10:c.4150A>G MANE Select	ENSP00000325527.5:p.Met1384Val
ENST00000316623.9:c.4150A>G	ENSP00000325527.5:p.Met1384Val
ENST00000537463.6:c.822A>G	ENSP00000440294.2:p.Pro274=
NM_000138.4:c.4150A>G , LRG_778t1:c.4150A>G	NP_000129.3:p.Met1384Val
NM_000138.5:c.4150A>G MANE Select	NP_000129.3:p.Met1384Val