Canonical Allele Identifier: CA392325736

Gene: FBN1

Linked Data

• ClinVar Variation Id: 457264
• ClinVar RCV Id: RCV000537261 ; RCV001552938
• dbSNP Id: rs113544411
• MyVariant Identifiers: chr15:g.48713849G>C (hg19) ; chr15:g.48421652G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48421652G>C , CM000677.2:g.48421652G>C	GRCh38
NC_000015.9:g.48713849G>C , CM000677.1:g.48713849G>C	GRCh37
NC_000015.8:g.46501141G>C	NCBI36
NG_008805.2:g.229137C>G , LRG_778:g.229137C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*413C>G	ENSP00000453958.2:n.*413C>G
ENST00000674301.2:c.*1118C>G	ENSP00000501333.2:n.*1118C>G
ENST00000682170.1:n.1786C>G
ENST00000682767.1:n.902C>G
ENST00000316623.10:c.7605C>G MANE Select	ENSP00000325527.5:p.Cys2535Trp
ENST00000674301.1:c.2771C>G	ENSP00000501333.1:n.2771C>G
ENST00000316623.9:c.7605C>G	ENSP00000325527.5:p.Cys2535Trp
ENST00000559133.5:c.2974C>G
NM_000138.4:c.7605C>G , LRG_778t1:c.7605C>G	NP_000129.3:p.Cys2535Trp
NM_000138.5:c.7605C>G MANE Select	NP_000129.3:p.Cys2535Trp