Canonical Allele Identifier: CA016590

Gene: FBN1

Linked Data

• ClinVar Variation Id: 42405
• ClinVar RCV Id: RCV000035248
• dbSNP Id: rs397515836
• MyVariant Identifiers: chr15:g.48725172A>C (hg19) ; chr15:g.48432975A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48432975A>C , CM000677.2:g.48432975A>C	GRCh38
NC_000015.9:g.48725172A>C , CM000677.1:g.48725172A>C	GRCh37
NC_000015.8:g.46512464A>C	NCBI36
NG_008805.2:g.217814T>G , LRG_778:g.217814T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.6630T>G	ENSP00000453958.2:p.Cys2210Trp
ENST00000674301.2:c.*81T>G	ENSP00000501333.2:n.*81T>G
ENST00000682170.1:n.239T>G
ENST00000316623.10:c.6630T>G MANE Select	ENSP00000325527.5:p.Cys2210Trp
ENST00000674301.1:c.1734T>G	ENSP00000501333.1:n.1734T>G
ENST00000316623.9:c.6630T>G	ENSP00000325527.5:p.Cys2210Trp
ENST00000537463.6:c.*2393T>G	ENSP00000440294.2:n.*2393T>G
ENST00000559133.5:c.1937T>G
NM_000138.4:c.6630T>G , LRG_778t1:c.6630T>G	NP_000129.3:p.Cys2210Trp
NM_000138.5:c.6630T>G MANE Select	NP_000129.3:p.Cys2210Trp