Canonical Allele Identifier: CA392340965

Gene: FBN1

Linked Data

• ClinVar Variation Id: 2144409
• ClinVar RCV Id: RCV003062959
• dbSNP Id: rs113422242
• gnomAD v4: 15-48510065-G-C
• MyVariant Identifiers: chr15:g.48802262G>C (hg19) ; chr15:g.48510065G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48510065G>C , CM000677.2:g.48510065G>C	GRCh38
NC_000015.9:g.48802262G>C , CM000677.1:g.48802262G>C	GRCh37
NC_000015.8:g.46589554G>C	NCBI36
NG_008805.2:g.140724C>G , LRG_778:g.140724C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000559133.6:c.1693C>G	ENSP00000453958.2:p.Arg565Gly
ENST00000674301.2:c.1693C>G	ENSP00000501333.2:p.Arg565Gly
ENST00000684448.1:n.367C>G
ENST00000316623.10:c.1693C>G MANE Select	ENSP00000325527.5:p.Arg565Gly
ENST00000316623.9:c.1693C>G	ENSP00000325527.5:p.Arg565Gly
ENST00000537463.6:c.636+27646C>G	ENSP00000440294.2:n.636+27646C>G
NM_000138.4:c.1693C>G , LRG_778t1:c.1693C>G	NP_000129.3:p.Arg565Gly
NM_000138.5:c.1693C>G MANE Select	NP_000129.3:p.Arg565Gly