Canonical Allele Identifier: CA057409

Gene: FBN1

Linked Data

• ClinVar Variation Id: 570431
• ClinVar RCV Id: RCV002360740
• dbSNP Id: rs771716423
• ExAC: 15:48722956 T / G
• gnomAD v2: 15-48722956-T-G
• gnomAD v3: 15-48430759-T-G
• gnomAD v4: 15-48430759-T-G
• MyVariant Identifiers: chr15:g.48722956T>G (hg19) ; chr15:g.48430759T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48430759T>G , CM000677.2:g.48430759T>G	GRCh38
NC_000015.9:g.48722956T>G , CM000677.1:g.48722956T>G	GRCh37
NC_000015.8:g.46510248T>G	NCBI36
NG_008805.2:g.220030A>C , LRG_778:g.220030A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000559133.6:c.6783A>C	ENSP00000453958.2:p.Lys2261Asn
ENST00000674301.2:c.*234A>C	ENSP00000501333.2:n.*234A>C
ENST00000682170.1:n.392A>C
ENST00000316623.10:c.6783A>C MANE Select	ENSP00000325527.5:p.Lys2261Asn
ENST00000674301.1:c.1887A>C	ENSP00000501333.1:n.1887A>C
ENST00000316623.9:c.6783A>C	ENSP00000325527.5:p.Lys2261Asn
ENST00000559133.5:c.2090A>C
ENST00000560720.1:n.70A>C
NM_000138.4:c.6783A>C , LRG_778t1:c.6783A>C	NP_000129.3:p.Lys2261Asn
NM_000138.5:c.6783A>C MANE Select	NP_000129.3:p.Lys2261Asn