Canonical Allele Identifier: CA051637

Gene: FBN1

Linked Data

• ClinVar Variation Id: 255295
• ClinVar RCV Id: RCV000249503 ; RCV001191554 ; RCV001347798 ; RCV003989507
• dbSNP Id: rs140647
• ExAC: 15:48773971 T / C
• gnomAD v2: 15-48773971-T-C
• gnomAD v3: 15-48481774-T-C
• gnomAD v4: 15-48481774-T-C
• MyVariant Identifiers: chr15:g.48773971T>C (hg19) ; chr15:g.48481774T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48481774T>C , CM000677.2:g.48481774T>C	GRCh38
NC_000015.9:g.48773971T>C , CM000677.1:g.48773971T>C	GRCh37
NC_000015.8:g.46561263T>C	NCBI36
NG_008805.2:g.169015A>G , LRG_778:g.169015A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.3845A>G	ENSP00000453958.2:p.Asn1282Ser
ENST00000674301.2:c.3845A>G	ENSP00000501333.2:p.Asn1282Ser
ENST00000684448.1:n.2519A>G
ENST00000316623.10:c.3845A>G MANE Select	ENSP00000325527.5:p.Asn1282Ser
ENST00000316623.9:c.3845A>G	ENSP00000325527.5:p.Asn1282Ser
ENST00000537463.6:c.637-7124A>G	ENSP00000440294.2:n.637-7124A>G
NM_000138.4:c.3845A>G , LRG_778t1:c.3845A>G	NP_000129.3:p.Asn1282Ser
NM_000138.5:c.3845A>G MANE Select	NP_000129.3:p.Asn1282Ser