Canonical Allele Identifier: CA052232

Gene: FBN1

Linked Data

• ClinVar Variation Id: 457205
• ClinVar RCV Id: RCV000554276 ; RCV001117849 ; RCV001117851 ; RCV001117853 ; RCV001117854 ; RCV000771376 ; RCV001117850 ; RCV001117852 ; RCV004537904
• dbSNP Id: rs28730793
• ExAC: 15:48764883 G / A
• gnomAD v2: 15-48764883-G-A
• gnomAD v3: 15-48472686-G-A
• gnomAD v4: 15-48472686-G-A
• MyVariant Identifiers: chr15:g.48764883G>A (hg19) ; chr15:g.48472686G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48472686G>A , CM000677.2:g.48472686G>A	GRCh38
NC_000015.9:g.48764883G>A , CM000677.1:g.48764883G>A	GRCh37
NC_000015.8:g.46552175G>A	NCBI36
NG_008805.2:g.178103C>T , LRG_778:g.178103C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.4211-10C>T	ENSP00000453958.2:n.4211-10C>T
ENST00000674301.2:c.4211-10C>T	ENSP00000501333.2:n.4211-10C>T
ENST00000683268.1:n.168C>T
ENST00000684448.1:n.2885-10C>T
ENST00000316623.10:c.4211-10C>T MANE Select	ENSP00000325527.5:n.4211-10C>T
ENST00000316623.9:c.4211-10C>T	ENSP00000325527.5:n.4211-10C>T
ENST00000537463.6:c.883-10C>T	ENSP00000440294.2:n.883-10C>T
NM_000138.4:c.4211-10C>T , LRG_778t1:c.4211-10C>T	NP_000129.3:n.4211-10C>T
NM_000138.5:c.4211-10C>T MANE Select	NP_000129.3:n.4211-10C>T