Canonical Allele Identifier: CA392349211

Gene: FBN1

Linked Data

• ClinVar Variation Id: 921816
• ClinVar RCV Id: RCV001181466
• dbSNP Id: rs368287795
• MyVariant Identifiers: chr15:g.48755361C>G (hg19) ; chr15:g.48463164C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48463164C>G , CM000677.2:g.48463164C>G	GRCh38
NC_000015.9:g.48755361C>G , CM000677.1:g.48755361C>G	GRCh37
NC_000015.8:g.46542653C>G	NCBI36
NG_008805.2:g.187625G>C , LRG_778:g.187625G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.5142G>C	ENSP00000453958.2:p.Met1714Ile
ENST00000674301.2:c.5142G>C	ENSP00000501333.2:p.Met1714Ile
ENST00000684448.1:n.3816G>C
ENST00000316623.10:c.5142G>C MANE Select	ENSP00000325527.5:p.Met1714Ile
ENST00000674301.1:c.141G>C	ENSP00000501333.1:p.Met47Ile
ENST00000316623.9:c.5142G>C	ENSP00000325527.5:p.Met1714Ile
ENST00000537463.6:c.*905G>C	ENSP00000440294.2:n.*905G>C
ENST00000559133.5:c.449G>C
NM_000138.4:c.5142G>C , LRG_778t1:c.5142G>C	NP_000129.3:p.Met1714Ile
NM_000138.5:c.5142G>C MANE Select	NP_000129.3:p.Met1714Ile