Canonical Allele Identifier: CA050611

Gene: FBN1

Linked Data

• ClinVar Variation Id: 452521
• ClinVar RCV Id: RCV000519310 ; RCV001858030 ; RCV001180375 ; RCV002490922 ; RCV004003641
• dbSNP Id: rs147584221
• ExAC: 15:48779526 T / C
• gnomAD v2: 15-48779526-T-C
• gnomAD v3: 15-48487329-T-C
• gnomAD v4: 15-48487329-T-C
• MyVariant Identifiers: chr15:g.48779526T>C (hg19) ; chr15:g.48487329T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48487329T>C , CM000677.2:g.48487329T>C	GRCh38
NC_000015.9:g.48779526T>C , CM000677.1:g.48779526T>C	GRCh37
NC_000015.8:g.46566818T>C	NCBI36
NG_008805.2:g.163460A>G , LRG_778:g.163460A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.3446A>G	ENSP00000453958.2:p.Asn1149Ser
ENST00000674301.2:c.3446A>G	ENSP00000501333.2:p.Asn1149Ser
ENST00000684448.1:n.2120A>G
ENST00000316623.10:c.3446A>G MANE Select	ENSP00000325527.5:p.Asn1149Ser
ENST00000316623.9:c.3446A>G	ENSP00000325527.5:p.Asn1149Ser
ENST00000537463.6:c.637-12679A>G	ENSP00000440294.2:n.637-12679A>G
NM_000138.4:c.3446A>G , LRG_778t1:c.3446A>G	NP_000129.3:p.Asn1149Ser
NM_000138.5:c.3446A>G MANE Select	NP_000129.3:p.Asn1149Ser