Canonical Allele Identifier: CA392320132

Gene: FBN1

Linked Data

• ClinVar Variation Id: 1002178
• ClinVar RCV Id: RCV001298560
• dbSNP Id: rs763816801
• gnomAD v2: 15-48703554-T-C
• gnomAD v4: 15-48411357-T-C
• MyVariant Identifiers: chr15:g.48703554T>C (hg19) ; chr15:g.48411357T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48411357T>C , CM000677.2:g.48411357T>C	GRCh38
NC_000015.9:g.48703554T>C , CM000677.1:g.48703554T>C	GRCh37
NC_000015.8:g.46490846T>C	NCBI36
NG_008805.2:g.239432A>G , LRG_778:g.239432A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*1057A>G	ENSP00000453958.2:n.*1057A>G
ENST00000674301.2:c.*1762A>G	ENSP00000501333.2:n.*1762A>G
ENST00000682158.1:n.1630A>G
ENST00000682170.1:n.2430A>G
ENST00000682767.1:n.1546A>G
ENST00000316623.10:c.8249A>G MANE Select	ENSP00000325527.5:p.Asn2750Ser
ENST00000674301.1:c.3415A>G	ENSP00000501333.1:n.3415A>G
ENST00000316623.9:c.8249A>G	ENSP00000325527.5:p.Asn2750Ser
ENST00000559133.5:c.3618A>G
ENST00000561429.1:n.504A>G
NM_000138.4:c.8249A>G , LRG_778t1:c.8249A>G	NP_000129.3:p.Asn2750Ser
NM_000138.5:c.8249A>G MANE Select	NP_000129.3:p.Asn2750Ser