Canonical Allele Identifier: CA046043

Gene: FBN1

Linked Data

• ClinVar Variation Id: 406295
• ClinVar RCV Id: RCV000470131 ; RCV001180046 ; RCV001662422
• dbSNP Id: rs199950267
• ExAC: 15:48800775 G / A
• gnomAD v2: 15-48800775-G-A
• gnomAD v3: 15-48508578-G-A
• gnomAD v4: 15-48508578-G-A
• MyVariant Identifiers: chr15:g.48800775G>A (hg19) ; chr15:g.48508578G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48508578G>A , CM000677.2:g.48508578G>A	GRCh38
NC_000015.9:g.48800775G>A , CM000677.1:g.48800775G>A	GRCh37
NC_000015.8:g.46588067G>A	NCBI36
NG_008805.2:g.142211C>T , LRG_778:g.142211C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.1837+4C>T	ENSP00000453958.2:n.1837+4C>T
ENST00000674301.2:c.1837+4C>T	ENSP00000501333.2:n.1837+4C>T
ENST00000684448.1:n.511+4C>T
ENST00000316623.10:c.1837+4C>T MANE Select	ENSP00000325527.5:n.1837+4C>T
ENST00000316623.9:c.1837+4C>T	ENSP00000325527.5:n.1837+4C>T
ENST00000537463.6:c.636+29133C>T	ENSP00000440294.2:n.636+29133C>T
NM_000138.4:c.1837+4C>T , LRG_778t1:c.1837+4C>T	NP_000129.3:n.1837+4C>T
NM_000138.5:c.1837+4C>T MANE Select	NP_000129.3:n.1837+4C>T