Canonical Allele Identifier: CA014391
Gene: FBN1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 16464
ClinVar RCV Id: RCV000030943
dbSNP Id: rs137854483

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48485424C>T , CM000677.2:g.48485424C>T GRCh38
NC_000015.9:g.48777621C>T , CM000677.1:g.48777621C>T GRCh37
NC_000015.8:g.46564913C>T NCBI36
NG_008805.2:g.165365G>A , LRG_778:g.165365G>A

Transcript Alleles

HGVS Amino-acid change
NM_000138.4:c.3662G>A , LRG_778t1:c.3662G>A NP_000129.3:p.Cys1221Tyr
ENST00000316623.9:c.3662G>A ENSP00000325527.5:p.Cys1221Tyr
ENST00000537463.6:c.637-10774G>A ENSP00000440294.2:p.=