Canonical Allele Identifier: CA015058

Gene: FBN1

Linked Data

• ClinVar Variation Id: 200044
• ClinVar RCV Id: RCV000181520 ; RCV000465923 ; RCV001178817 ; RCV001192802 ; RCV002500530 ; RCV003996687
• dbSNP Id: rs370161725
• ExAC: 15:48762853 G / C
• gnomAD v2: 15-48762853-G-C
• gnomAD v4: 15-48470656-G-C
• MyVariant Identifiers: chr15:g.48762853G>C (hg19) ; chr15:g.48470656G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48470656G>C , CM000677.2:g.48470656G>C	GRCh38
NC_000015.9:g.48762853G>C , CM000677.1:g.48762853G>C	GRCh37
NC_000015.8:g.46550145G>C	NCBI36
NG_008805.2:g.180133C>G , LRG_778:g.180133C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.4437C>G	ENSP00000453958.2:p.Asp1479Glu
ENST00000674301.2:c.4437C>G	ENSP00000501333.2:p.Asp1479Glu
ENST00000683268.1:n.404C>G
ENST00000684448.1:n.3111C>G
ENST00000316623.10:c.4437C>G MANE Select	ENSP00000325527.5:p.Asp1479Glu
ENST00000316623.9:c.4437C>G	ENSP00000325527.5:p.Asp1479Glu
ENST00000537463.6:c.*200C>G	ENSP00000440294.2:n.*200C>G
NM_000138.4:c.4437C>G , LRG_778t1:c.4437C>G	NP_000129.3:p.Asp1479Glu
NM_000138.5:c.4437C>G MANE Select	NP_000129.3:p.Asp1479Glu