Canonical Allele Identifier: CA059948

Gene: FBN1

Linked Data

• ClinVar Variation Id: 451847
• ClinVar RCV Id: RCV000523557 ; RCV001066350 ; RCV004003632
• dbSNP Id: rs775505429
• ExAC: 15:48826307 T / C
• gnomAD v2: 15-48826307-T-C
• gnomAD v3: 15-48534110-T-C
• gnomAD v4: 15-48534110-T-C
• MyVariant Identifiers: chr15:g.48826307T>C (hg19) ; chr15:g.48534110T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48534110T>C , CM000677.2:g.48534110T>C	GRCh38
NC_000015.9:g.48826307T>C , CM000677.1:g.48826307T>C	GRCh37
NC_000015.8:g.46613599T>C	NCBI36
NG_008805.2:g.116679A>G , LRG_778:g.116679A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.832A>G	ENSP00000453958.2:p.Lys278Glu
ENST00000674301.2:c.832A>G	ENSP00000501333.2:p.Lys278Glu
ENST00000316623.10:c.832A>G MANE Select	ENSP00000325527.5:p.Lys278Glu
ENST00000316623.9:c.832A>G	ENSP00000325527.5:p.Lys278Glu
ENST00000537463.6:c.636+3601A>G	ENSP00000440294.2:n.636+3601A>G
NM_000138.4:c.832A>G , LRG_778t1:c.832A>G	NP_000129.3:p.Lys278Glu
NM_000138.5:c.832A>G MANE Select	NP_000129.3:p.Lys278Glu