Canonical Allele Identifier: CA059041

Gene: FBN1

Linked Data

• ClinVar Variation Id: 512424
• ClinVar RCV Id: RCV001177327 ; RCV001697985 ; RCV002064084 ; RCV003323633 ; RCV004002552
• dbSNP Id: rs775509707
• ExAC: 15:48713016 C / G
• gnomAD v2: 15-48713016-C-G
• gnomAD v3: 15-48420819-C-G
• gnomAD v4: 15-48420819-C-G
• MyVariant Identifiers: chr15:g.48713016C>G (hg19) ; chr15:g.48420819C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48420819C>G , CM000677.2:g.48420819C>G	GRCh38
NC_000015.9:g.48713016C>G , CM000677.1:g.48713016C>G	GRCh37
NC_000015.8:g.46500308C>G	NCBI36
NG_008805.2:g.229970G>C , LRG_778:g.229970G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*508-13G>C	ENSP00000453958.2:n.*508-13G>C
ENST00000674301.2:c.*1213-13G>C	ENSP00000501333.2:n.*1213-13G>C
ENST00000682170.1:n.1881-13G>C
ENST00000682767.1:n.997-13G>C
ENST00000316623.10:c.7700-13G>C MANE Select	ENSP00000325527.5:n.7700-13G>C
ENST00000674301.1:c.2866-13G>C	ENSP00000501333.1:n.2866-13G>C
ENST00000316623.9:c.7700-13G>C	ENSP00000325527.5:n.7700-13G>C
ENST00000559133.5:c.3069-13G>C
NM_000138.4:c.7700-13G>C , LRG_778t1:c.7700-13G>C	NP_000129.3:n.7700-13G>C
NM_000138.5:c.7700-13G>C MANE Select	NP_000129.3:n.7700-13G>C