Canonical Allele Identifier: CA392330418
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1458521
ClinVar RCV Id: RCV001949528
dbSNP Id: rs2141300266

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48492467A>G , CM000677.2:g.48492467A>G GRCh38
NC_000015.9:g.48784664A>G , CM000677.1:g.48784664A>G GRCh37
NC_000015.8:g.46571956A>G NCBI36
NG_008805.2:g.158322T>C , LRG_778:g.158322T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.2848T>C ENSP00000453958.2:p.Cys950Arg
ENST00000674301.2:c.2848T>C ENSP00000501333.2:p.Cys950Arg
ENST00000684448.1:n.1522T>C
ENST00000316623.10:c.2848T>C MANE Select ENSP00000325527.5:p.Cys950Arg
ENST00000316623.9:c.2848T>C ENSP00000325527.5:p.Cys950Arg
ENST00000537463.6:c.637-17817T>C ENSP00000440294.2:n.637-17817T>C
NM_000138.4:c.2848T>C , LRG_778t1:c.2848T>C NP_000129.3:p.Cys950Arg
NM_000138.5:c.2848T>C MANE Select NP_000129.3:p.Cys950Arg