Canonical Allele Identifier: CA016845

Gene: FBN1

Linked Data

• ClinVar Variation Id: 16422
• ClinVar RCV Id: RCV000017884 ; RCV000663912
• dbSNP Id: rs137854457
• MyVariant Identifiers: chr15:g.48720620C>G (hg19) ; chr15:g.48428423C>G (hg38)
• PubMed: PMID:1301946

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48428423C>G , CM000677.2:g.48428423C>G	GRCh38
NC_000015.9:g.48720620C>G , CM000677.1:g.48720620C>G	GRCh37
NC_000015.8:g.46507912C>G	NCBI36
NG_008805.2:g.222366G>C , LRG_778:g.222366G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000559133.6:c.6920G>C	ENSP00000453958.2:p.Cys2307Ser
ENST00000674301.2:c.*371G>C	ENSP00000501333.2:n.*371G>C
ENST00000682170.1:n.529G>C
ENST00000682767.1:n.155G>C
ENST00000316623.10:c.6920G>C MANE Select	ENSP00000325527.5:p.Cys2307Ser
ENST00000674301.1:c.2024G>C	ENSP00000501333.1:n.2024G>C
ENST00000316623.9:c.6920G>C	ENSP00000325527.5:p.Cys2307Ser
ENST00000559133.5:c.2227G>C
ENST00000560720.1:n.207G>C
NM_000138.4:c.6920G>C , LRG_778t1:c.6920G>C	NP_000129.3:p.Cys2307Ser
NM_000138.5:c.6920G>C MANE Select	NP_000129.3:p.Cys2307Ser