Canonical Allele Identifier: CA046793

Gene: FBN1

Linked Data

• ClinVar Variation Id: 255287
• ClinVar RCV Id: RCV000247865 ; RCV003765491
• dbSNP Id: rs541501178
• ExAC: 15:48795965 T / A
• gnomAD v2: 15-48795965-T-A
• gnomAD v3: 15-48503768-T-A
• gnomAD v4: 15-48503768-T-A
• MyVariant Identifiers: chr15:g.48795965T>A (hg19) ; chr15:g.48503768T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48503768T>A , CM000677.2:g.48503768T>A	GRCh38
NC_000015.9:g.48795965T>A , CM000677.1:g.48795965T>A	GRCh37
NC_000015.8:g.46583257T>A	NCBI36
NG_008805.2:g.147021A>T , LRG_778:g.147021A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.2113+19A>T	ENSP00000453958.2:n.2113+19A>T
ENST00000674301.2:c.2113+19A>T	ENSP00000501333.2:n.2113+19A>T
ENST00000684448.1:n.787+19A>T
ENST00000316623.10:c.2113+19A>T MANE Select	ENSP00000325527.5:n.2113+19A>T
ENST00000316623.9:c.2113+19A>T	ENSP00000325527.5:n.2113+19A>T
ENST00000537463.6:c.637-29118A>T	ENSP00000440294.2:n.637-29118A>T
NM_000138.4:c.2113+19A>T , LRG_778t1:c.2113+19A>T	NP_000129.3:n.2113+19A>T
NM_000138.5:c.2113+19A>T MANE Select	NP_000129.3:n.2113+19A>T