Canonical Allele Identifier: CA392318084

Gene: FBN1

Linked Data

• MyVariant Identifiers: chr15:g.48764861C>A (hg19) ; chr15:g.48472664C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48472664C>A , CM000677.2:g.48472664C>A	GRCh38
NC_000015.9:g.48764861C>A , CM000677.1:g.48764861C>A	GRCh37
NC_000015.8:g.46552153C>A	NCBI36
NG_008805.2:g.178125G>T , LRG_778:g.178125G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.4223G>T	ENSP00000453958.2:p.Cys1408Phe
ENST00000674301.2:c.4223G>T	ENSP00000501333.2:p.Cys1408Phe
ENST00000683268.1:n.190G>T
ENST00000684448.1:n.2897G>T
ENST00000316623.10:c.4223G>T MANE Select	ENSP00000325527.5:p.Cys1408Phe
ENST00000316623.9:c.4223G>T	ENSP00000325527.5:p.Cys1408Phe
ENST00000537463.6:c.895G>T	ENSP00000440294.2:p.Ala299Ser
NM_000138.4:c.4223G>T , LRG_778t1:c.4223G>T	NP_000129.3:p.Cys1408Phe
NM_000138.5:c.4223G>T MANE Select	NP_000129.3:p.Cys1408Phe