Canonical Allele Identifier: CA012711

Gene: FBN1

Linked Data

• ClinVar Variation Id: 199986
• ClinVar RCV Id: RCV000181450
• dbSNP Id: rs794728182
• MyVariant Identifiers: chr15:g.48796075C>G (hg19) ; chr15:g.48503878C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48503878C>G , CM000677.2:g.48503878C>G	GRCh38
NC_000015.9:g.48796075C>G , CM000677.1:g.48796075C>G	GRCh37
NC_000015.8:g.46583367C>G	NCBI36
NG_008805.2:g.146911G>C , LRG_778:g.146911G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000559133.6:c.2022G>C	ENSP00000453958.2:p.Leu674Phe
ENST00000674301.2:c.2022G>C	ENSP00000501333.2:p.Leu674Phe
ENST00000684448.1:n.696G>C
ENST00000316623.10:c.2022G>C MANE Select	ENSP00000325527.5:p.Leu674Phe
ENST00000316623.9:c.2022G>C	ENSP00000325527.5:p.Leu674Phe
ENST00000537463.6:c.637-29228G>C	ENSP00000440294.2:n.637-29228G>C
NM_000138.4:c.2022G>C , LRG_778t1:c.2022G>C	NP_000129.3:p.Leu674Phe
NM_000138.5:c.2022G>C MANE Select	NP_000129.3:p.Leu674Phe