Canonical Allele Identifier: CA16607111
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 381613
ClinVar RCV Id: RCV000433676
dbSNP Id: rs1057521103

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48596360C>G , CM000677.2:g.48596360C>G GRCh38
NC_000015.9:g.48888557C>G , CM000677.1:g.48888557C>G GRCh37
NC_000015.8:g.46675849C>G NCBI36
NG_008805.2:g.54429G>C , LRG_778:g.54429G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000559133.6:c.461G>C ENSP00000453958.2:p.Cys154Ser
ENST00000674301.2:c.461G>C ENSP00000501333.2:p.Cys154Ser
ENST00000316623.10:c.461G>C MANE Select ENSP00000325527.5:p.Cys154Ser
ENST00000316623.9:c.461G>C ENSP00000325527.5:p.Cys154Ser
ENST00000537463.6:c.461G>C ENSP00000440294.2:p.Cys154Ser
NM_000138.4:c.461G>C , LRG_778t1:c.461G>C NP_000129.3:p.Cys154Ser
NM_000138.5:c.461G>C MANE Select NP_000129.3:p.Cys154Ser