Canonical Allele Identifier: CA392324463
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 931716
ClinVar RCV Id: RCV001198578
dbSNP Id: rs760712674

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48485432G>C , CM000677.2:g.48485432G>C GRCh38
NC_000015.9:g.48777629G>C , CM000677.1:g.48777629G>C GRCh37
NC_000015.8:g.46564921G>C NCBI36
NG_008805.2:g.165357C>G , LRG_778:g.165357C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.3654C>G ENSP00000453958.2:p.Ser1218Arg
ENST00000674301.2:c.3654C>G ENSP00000501333.2:p.Ser1218Arg
ENST00000684448.1:n.2328C>G
ENST00000316623.10:c.3654C>G MANE Select ENSP00000325527.5:p.Ser1218Arg
ENST00000316623.9:c.3654C>G ENSP00000325527.5:p.Ser1218Arg
ENST00000537463.6:c.637-10782C>G ENSP00000440294.2:n.637-10782C>G
NM_000138.4:c.3654C>G , LRG_778t1:c.3654C>G NP_000129.3:p.Ser1218Arg
NM_000138.5:c.3654C>G MANE Select NP_000129.3:p.Ser1218Arg