Canonical Allele Identifier: CA392330472
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2088587
ClinVar RCV Id: RCV003018137

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48492482C>G , CM000677.2:g.48492482C>G GRCh38
NC_000015.9:g.48784679C>G , CM000677.1:g.48784679C>G GRCh37
NC_000015.8:g.46571971C>G NCBI36
NG_008805.2:g.158307G>C , LRG_778:g.158307G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.2833G>C ENSP00000453958.2:p.Ala945Pro
ENST00000674301.2:c.2833G>C ENSP00000501333.2:p.Ala945Pro
ENST00000684448.1:n.1507G>C
ENST00000316623.10:c.2833G>C MANE Select ENSP00000325527.5:p.Ala945Pro
ENST00000316623.9:c.2833G>C ENSP00000325527.5:p.Ala945Pro
ENST00000537463.6:c.637-17832G>C ENSP00000440294.2:n.637-17832G>C
NM_000138.4:c.2833G>C , LRG_778t1:c.2833G>C NP_000129.3:p.Ala945Pro
NM_000138.5:c.2833G>C MANE Select NP_000129.3:p.Ala945Pro