Canonical Allele Identifier: CA052073

Gene: FBN1

Linked Data

• ClinVar Variation Id: 263872
• ClinVar RCV Id: RCV002310878 ; RCV002518700
• dbSNP Id: rs763449629
• ExAC: 15:48766566 C / G
• gnomAD v2: 15-48766566-C-G
• gnomAD v4: 15-48474369-C-G
• MyVariant Identifiers: chr15:g.48766566C>G (hg19) ; chr15:g.48474369C>G (hg38)
• PubMed: PMID:14695540 ; PMID:15221638 ; PMID:24199744

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48474369C>G , CM000677.2:g.48474369C>G	GRCh38
NC_000015.9:g.48766566C>G , CM000677.1:g.48766566C>G	GRCh37
NC_000015.8:g.46553858C>G	NCBI36
NG_008805.2:g.176420G>C , LRG_778:g.176420G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.4096G>C	ENSP00000453958.2:p.Glu1366Gln
ENST00000674301.2:c.4096G>C	ENSP00000501333.2:p.Glu1366Gln
ENST00000684448.1:n.2770G>C
ENST00000316623.10:c.4096G>C MANE Select	ENSP00000325527.5:p.Glu1366Gln
ENST00000316623.9:c.4096G>C	ENSP00000325527.5:p.Glu1366Gln
ENST00000537463.6:c.768G>C	ENSP00000440294.2:p.Thr256=
NM_000138.4:c.4096G>C , LRG_778t1:c.4096G>C	NP_000129.3:p.Glu1366Gln
NM_000138.5:c.4096G>C MANE Select	NP_000129.3:p.Glu1366Gln