Canonical Allele Identifier: CA014509

Gene: FBN1

Linked Data

• ClinVar Variation Id: 16425
• ClinVar RCV Id: RCV000017887 ; RCV002345247
• dbSNP Id: rs137854458
• MyVariant Identifiers: chr15:g.48776107C>G (hg19) ; chr15:g.48483910C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48483910C>G , CM000677.2:g.48483910C>G	GRCh38
NC_000015.9:g.48776107C>G , CM000677.1:g.48776107C>G	GRCh37
NC_000015.8:g.46563399C>G	NCBI36
NG_008805.2:g.166879G>C , LRG_778:g.166879G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.3746G>C	ENSP00000453958.2:p.Cys1249Ser
ENST00000674301.2:c.3746G>C	ENSP00000501333.2:p.Cys1249Ser
ENST00000684448.1:n.2420G>C
ENST00000316623.10:c.3746G>C MANE Select	ENSP00000325527.5:p.Cys1249Ser
ENST00000316623.9:c.3746G>C	ENSP00000325527.5:p.Cys1249Ser
ENST00000537463.6:c.637-9260G>C	ENSP00000440294.2:n.637-9260G>C
NM_000138.4:c.3746G>C , LRG_778t1:c.3746G>C	NP_000129.3:p.Cys1249Ser
NM_000138.5:c.3746G>C MANE Select	NP_000129.3:p.Cys1249Ser