Canonical Allele Identifier: CA392342490

Gene: FBN1

Linked Data

• COSMIC: COSM4055305
• MyVariant Identifiers: chr15:g.48741074T>G (hg19) ; chr15:g.48448877T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48448877T>G , CM000677.2:g.48448877T>G	GRCh38
NC_000015.9:g.48741074T>G , CM000677.1:g.48741074T>G	GRCh37
NC_000015.8:g.46528366T>G	NCBI36
NG_008805.2:g.201912A>C , LRG_778:g.201912A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.5562A>C	ENSP00000453958.2:p.Gln1854His
ENST00000674301.2:c.5562A>C	ENSP00000501333.2:p.Gln1854His
ENST00000684448.1:n.4236A>C
ENST00000316623.10:c.5562A>C MANE Select	ENSP00000325527.5:p.Gln1854His
ENST00000674301.1:c.561A>C	ENSP00000501333.1:p.Gln187His
ENST00000316623.9:c.5562A>C	ENSP00000325527.5:p.Gln1854His
ENST00000537463.6:c.*1325A>C	ENSP00000440294.2:n.*1325A>C
ENST00000559133.5:c.869A>C
NM_000138.4:c.5562A>C , LRG_778t1:c.5562A>C	NP_000129.3:p.Gln1854His
NM_000138.5:c.5562A>C MANE Select	NP_000129.3:p.Gln1854His