Canonical Allele Identifier: CA392342138

Gene: FBN1

Linked Data

• ClinVar Variation Id: 527195
• ClinVar RCV Id: RCV000631991
• dbSNP Id: rs1555395985
• MyVariant Identifiers: chr15:g.48741046G>A (hg19) ; chr15:g.48448849G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48448849G>A , CM000677.2:g.48448849G>A	GRCh38
NC_000015.9:g.48741046G>A , CM000677.1:g.48741046G>A	GRCh37
NC_000015.8:g.46528338G>A	NCBI36
NG_008805.2:g.201940C>T , LRG_778:g.201940C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.5590C>T	ENSP00000453958.2:p.Gln1864Ter
ENST00000674301.2:c.5590C>T	ENSP00000501333.2:p.Gln1864Ter
ENST00000684448.1:n.4264C>T
ENST00000316623.10:c.5590C>T MANE Select	ENSP00000325527.5:p.Gln1864Ter
ENST00000674301.1:c.589C>T	ENSP00000501333.1:p.Gln197Ter
ENST00000316623.9:c.5590C>T	ENSP00000325527.5:p.Gln1864Ter
ENST00000537463.6:c.*1353C>T	ENSP00000440294.2:n.*1353C>T
ENST00000559133.5:c.897C>T
NM_000138.4:c.5590C>T , LRG_778t1:c.5590C>T	NP_000129.3:p.Gln1864Ter
NM_000138.5:c.5590C>T MANE Select	NP_000129.3:p.Gln1864Ter