Canonical Allele Identifier: CA014174

Gene: FBN1

Linked Data

• ClinVar Variation Id: 196159
• ClinVar RCV Id: RCV000590251 ; RCV001184495 ; RCV001393044 ; RCV003995687
• dbSNP Id: rs375596551
• ExAC: 15:48779403 G / A
• gnomAD v2: 15-48779403-G-A
• gnomAD v3: 15-48487206-G-A
• gnomAD v4: 15-48487206-G-A
• MyVariant Identifiers: chr15:g.48779403G>A (hg19) ; chr15:g.48487206G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48487206G>A , CM000677.2:g.48487206G>A	GRCh38
NC_000015.9:g.48779403G>A , CM000677.1:g.48779403G>A	GRCh37
NC_000015.8:g.46566695G>A	NCBI36
NG_008805.2:g.163583C>T , LRG_778:g.163583C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.3464-6C>T	ENSP00000453958.2:n.3464-6C>T
ENST00000674301.2:c.3464-6C>T	ENSP00000501333.2:n.3464-6C>T
ENST00000684448.1:n.2138-6C>T
ENST00000316623.10:c.3464-6C>T MANE Select	ENSP00000325527.5:n.3464-6C>T
ENST00000316623.9:c.3464-6C>T	ENSP00000325527.5:n.3464-6C>T
ENST00000537463.6:c.637-12556C>T	ENSP00000440294.2:n.637-12556C>T
NM_000138.4:c.3464-6C>T , LRG_778t1:c.3464-6C>T	NP_000129.3:n.3464-6C>T
NM_000138.5:c.3464-6C>T MANE Select	NP_000129.3:n.3464-6C>T