Canonical Allele Identifier: CA014604
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 126960
ClinVar RCV Id: RCV000114817
dbSNP Id: rs199474693

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48600196A>C , CM000677.2:g.48600196A>C GRCh38
NC_000015.9:g.48892393A>C , CM000677.1:g.48892393A>C GRCh37
NC_000015.8:g.46679685A>C NCBI36
NG_008805.2:g.50593T>G , LRG_778:g.50593T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.385T>G ENSP00000453958.2:p.Cys129Gly
ENST00000674301.2:c.385T>G ENSP00000501333.2:p.Cys129Gly
ENST00000316623.10:c.385T>G MANE Select ENSP00000325527.5:p.Cys129Gly
ENST00000316623.9:c.385T>G ENSP00000325527.5:p.Cys129Gly
ENST00000537463.6:c.385T>G ENSP00000440294.2:p.Cys129Gly
NM_000138.4:c.385T>G , LRG_778t1:c.385T>G NP_000129.3:p.Cys129Gly
NM_000138.5:c.385T>G MANE Select NP_000129.3:p.Cys129Gly