Canonical Allele Identifier: CA392320313
Gene: FBN1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr15:g.48766542A>T (hg19) chr15:g.48474345A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48474345A>T , CM000677.2:g.48474345A>T GRCh38
NC_000015.9:g.48766542A>T , CM000677.1:g.48766542A>T GRCh37
NC_000015.8:g.46553834A>T NCBI36
NG_008805.2:g.176444T>A , LRG_778:g.176444T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.4120T>A ENSP00000453958.2:p.Cys1374Ser
ENST00000674301.2:c.4120T>A ENSP00000501333.2:p.Cys1374Ser
ENST00000684448.1:n.2794T>A
ENST00000316623.10:c.4120T>A MANE Select ENSP00000325527.5:p.Cys1374Ser
ENST00000316623.9:c.4120T>A ENSP00000325527.5:p.Cys1374Ser
ENST00000537463.6:c.792T>A ENSP00000440294.2:p.Cys264Ter
NM_000138.4:c.4120T>A , LRG_778t1:c.4120T>A NP_000129.3:p.Cys1374Ser
NM_000138.5:c.4120T>A MANE Select NP_000129.3:p.Cys1374Ser
Search 100 bp 5'
Search 100 bp 3'