Canonical Allele Identifier: CA14131429
Gene: FBN1 HGNC NCBI

Linked Data

dbSNP Id: rs1036476

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48622578T>C , CM000677.2:g.48622578T>C GRCh38
NC_000015.9:g.48914775T>C , CM000677.1:g.48914775T>C GRCh37
NC_000015.8:g.46702067T>C NCBI36
NG_008805.2:g.28211A>G , LRG_778:g.28211A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000559133.6:c.165-9486A>G ENSP00000453958.2:n.165-9486A>G
ENST00000674301.2:c.165-9486A>G ENSP00000501333.2:n.165-9486A>G
ENST00000316623.10:c.165-9486A>G MANE Select ENSP00000325527.5:n.165-9486A>G
ENST00000316623.9:c.165-9486A>G ENSP00000325527.5:n.165-9486A>G
ENST00000537463.6:c.165-9486A>G ENSP00000440294.2:n.165-9486A>G
NM_000138.4:c.165-9486A>G , LRG_778t1:c.165-9486A>G NP_000129.3:n.165-9486A>G
NM_000138.5:c.165-9486A>G MANE Select NP_000129.3:n.165-9486A>G