Canonical Allele Identifier: CA490026933
Gene: FBN1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr15:g.48758021A>C (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48465824A>C , CM000677.2:g.48465824A>C GRCh38
NC_000015.9:g.48758021A>C , CM000677.1:g.48758021A>C GRCh37
NC_000015.8:g.46545313A>C NCBI36
NG_008805.2:g.184965T>G , LRG_778:g.184965T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000559133.6:c.4782T>G ENSP00000453958.2:p.Gly1594=
ENST00000674301.2:c.4782T>G ENSP00000501333.2:p.Gly1594=
ENST00000684448.1:n.3456T>G
ENST00000316623.10:c.4782T>G MANE Select ENSP00000325527.5:p.Gly1594=
ENST00000316623.9:c.4782T>G ENSP00000325527.5:p.Gly1594=
ENST00000537463.6:c.*545T>G ENSP00000440294.2:n.*545T>G
ENST00000559133.5:c.89T>G
NM_000138.4:c.4782T>G , LRG_778t1:c.4782T>G NP_000129.3:p.Gly1594=
NM_000138.5:c.4782T>G MANE Select NP_000129.3:p.Gly1594=
Search 100 bp 5'
Search 100 bp 3'