Canonical Allele Identifier: CA017165

Gene: FBN1

Linked Data

• ClinVar Variation Id: 42425
• ClinVar RCV Id: RCV000035270 ; RCV000659578 ; RCV000770658 ; RCV000756148 ; RCV001078925
• dbSNP Id: rs146166400
• ExAC: 15:48717673 T / C
• gnomAD v2: 15-48717673-T-C
• gnomAD v3: 15-48425476-T-C
• gnomAD v4: 15-48425476-T-C
• MyVariant Identifiers: chr15:g.48717673T>C (hg19) ; chr15:g.48425476T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48425476T>C , CM000677.2:g.48425476T>C	GRCh38
NC_000015.9:g.48717673T>C , CM000677.1:g.48717673T>C	GRCh37
NC_000015.8:g.46504965T>C	NCBI36
NG_008805.2:g.225313A>G , LRG_778:g.225313A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*154A>G	ENSP00000453958.2:n.*154A>G
ENST00000674301.2:c.*859A>G	ENSP00000501333.2:n.*859A>G
ENST00000682170.1:n.1527A>G
ENST00000682767.1:n.643A>G
ENST00000316623.10:c.7346A>G MANE Select	ENSP00000325527.5:p.Asn2449Ser
ENST00000674301.1:c.2512A>G	ENSP00000501333.1:n.2512A>G
ENST00000316623.9:c.7346A>G	ENSP00000325527.5:p.Asn2449Ser
ENST00000559133.5:c.2715A>G
NM_000138.4:c.7346A>G , LRG_778t1:c.7346A>G	NP_000129.3:p.Asn2449Ser
NM_000138.5:c.7346A>G MANE Select	NP_000129.3:p.Asn2449Ser