Canonical Allele Identifier: CA392318016
Gene: FBN1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48472647G>T , CM000677.2:g.48472647G>T GRCh38
NC_000015.9:g.48764844G>T , CM000677.1:g.48764844G>T GRCh37
NC_000015.8:g.46552136G>T NCBI36
NG_008805.2:g.178142C>A , LRG_778:g.178142C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.4240C>A ENSP00000453958.2:p.Leu1414Ile
ENST00000674301.2:c.4240C>A ENSP00000501333.2:p.Leu1414Ile
ENST00000683268.1:n.207C>A
ENST00000684448.1:n.2914C>A
ENST00000316623.10:c.4240C>A MANE Select ENSP00000325527.5:p.Leu1414Ile
ENST00000316623.9:c.4240C>A ENSP00000325527.5:p.Leu1414Ile
ENST00000537463.6:c.*3C>A ENSP00000440294.2:n.*3C>A
NM_000138.4:c.4240C>A , LRG_778t1:c.4240C>A NP_000129.3:p.Leu1414Ile
NM_000138.5:c.4240C>A MANE Select NP_000129.3:p.Leu1414Ile