Canonical Allele Identifier: CA057451

Gene: FBN1

Linked Data

• ClinVar Variation Id: 380285
• ClinVar RCV Id: RCV000422176 ; RCV000632048 ; RCV000769626 ; RCV000659570 ; RCV001810910 ; RCV004530565
• dbSNP Id: rs363835
• ExAC: 15:48722907 G / C
• gnomAD v2: 15-48722907-G-C
• gnomAD v3: 15-48430710-G-C
• gnomAD v4: 15-48430710-G-C
• MyVariant Identifiers: chr15:g.48722907G>C (hg19) ; chr15:g.48430710G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48430710G>C , CM000677.2:g.48430710G>C	GRCh38
NC_000015.9:g.48722907G>C , CM000677.1:g.48722907G>C	GRCh37
NC_000015.8:g.46510199G>C	NCBI36
NG_008805.2:g.220079C>G , LRG_778:g.220079C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.6832C>G	ENSP00000453958.2:p.Pro2278Ala
ENST00000674301.2:c.*283C>G	ENSP00000501333.2:n.*283C>G
ENST00000682170.1:n.441C>G
ENST00000316623.10:c.6832C>G MANE Select	ENSP00000325527.5:p.Pro2278Ala
ENST00000674301.1:c.1936C>G	ENSP00000501333.1:n.1936C>G
ENST00000316623.9:c.6832C>G	ENSP00000325527.5:p.Pro2278Ala
ENST00000559133.5:c.2139C>G
ENST00000560720.1:n.119C>G
NM_000138.4:c.6832C>G , LRG_778t1:c.6832C>G	NP_000129.3:p.Pro2278Ala
NM_000138.5:c.6832C>G MANE Select	NP_000129.3:p.Pro2278Ala