Canonical Allele Identifier: CA10583242

Gene: FBN1

Linked Data

• ClinVar Variation Id: 237099
• ClinVar RCV Id: RCV001378305
• dbSNP Id: rs111929350
• MyVariant Identifiers: chr15:g.48744800C>G (hg19) ; chr15:g.48452603C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48452603C>G , CM000677.2:g.48452603C>G	GRCh38
NC_000015.9:g.48744800C>G , CM000677.1:g.48744800C>G	GRCh37
NC_000015.8:g.46532092C>G	NCBI36
NG_008805.2:g.198186G>C , LRG_778:g.198186G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.5504G>C	ENSP00000453958.2:p.Cys1835Ser
ENST00000674301.2:c.5504G>C	ENSP00000501333.2:p.Cys1835Ser
ENST00000684448.1:n.4178G>C
ENST00000316623.10:c.5504G>C MANE Select	ENSP00000325527.5:p.Cys1835Ser
ENST00000674301.1:c.503G>C	ENSP00000501333.1:p.Cys168Ser
ENST00000316623.9:c.5504G>C	ENSP00000325527.5:p.Cys1835Ser
ENST00000537463.6:c.*1267G>C	ENSP00000440294.2:n.*1267G>C
ENST00000559133.5:c.811G>C
NM_000138.4:c.5504G>C , LRG_778t1:c.5504G>C	NP_000129.3:p.Cys1835Ser
NM_000138.5:c.5504G>C MANE Select	NP_000129.3:p.Cys1835Ser