Canonical Allele Identifier: CA053522

Gene: FBN1

Linked Data

• ClinVar Variation Id: 449605
• ClinVar RCV Id: RCV000523734 ; RCV000618591 ; RCV001185070 ; RCV001220123 ; RCV001199083 ; RCV002481699
• dbSNP Id: rs779490973
• ExAC: 15:48888551 T / C
• gnomAD v2: 15-48888551-T-C
• gnomAD v3: 15-48596354-T-C
• gnomAD v4: 15-48596354-T-C
• MyVariant Identifiers: chr15:g.48888551T>C (hg19) ; chr15:g.48596354T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48596354T>C , CM000677.2:g.48596354T>C	GRCh38
NC_000015.9:g.48888551T>C , CM000677.1:g.48888551T>C	GRCh37
NC_000015.8:g.46675843T>C	NCBI36
NG_008805.2:g.54435A>G , LRG_778:g.54435A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.467A>G	ENSP00000453958.2:p.Asn156Ser
ENST00000674301.2:c.467A>G	ENSP00000501333.2:p.Asn156Ser
ENST00000316623.10:c.467A>G MANE Select	ENSP00000325527.5:p.Asn156Ser
ENST00000316623.9:c.467A>G	ENSP00000325527.5:p.Asn156Ser
ENST00000537463.6:c.467A>G	ENSP00000440294.2:p.Asn156Ser
NM_000138.4:c.467A>G , LRG_778t1:c.467A>G	NP_000129.3:p.Asn156Ser
NM_000138.5:c.467A>G MANE Select	NP_000129.3:p.Asn156Ser