Canonical Allele Identifier: CA392317878
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1025680
dbSNP Id: rs2043386032

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48472625A>G , CM000677.2:g.48472625A>G GRCh38
NC_000015.9:g.48764822A>G , CM000677.1:g.48764822A>G GRCh37
NC_000015.8:g.46552114A>G NCBI36
NG_008805.2:g.178164T>C , LRG_778:g.178164T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.4262T>C ENSP00000453958.2:p.Leu1421Pro
ENST00000674301.2:c.4262T>C ENSP00000501333.2:p.Leu1421Pro
ENST00000683268.1:n.229T>C
ENST00000684448.1:n.2936T>C
ENST00000316623.10:c.4262T>C MANE Select ENSP00000325527.5:p.Leu1421Pro
ENST00000316623.9:c.4262T>C ENSP00000325527.5:p.Leu1421Pro
ENST00000537463.6:c.*25T>C ENSP00000440294.2:n.*25T>C
NM_000138.4:c.4262T>C , LRG_778t1:c.4262T>C NP_000129.3:p.Leu1421Pro
NM_000138.5:c.4262T>C MANE Select NP_000129.3:p.Leu1421Pro