Canonical Allele Identifier: CA490024198
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2926790
ClinVar RCV Id: RCV003789028
MyVariant Identifiers: chr15:g.48796066A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48503869A>G , CM000677.2:g.48503869A>G GRCh38
NC_000015.9:g.48796066A>G , CM000677.1:g.48796066A>G GRCh37
NC_000015.8:g.46583358A>G NCBI36
NG_008805.2:g.146920T>C , LRG_778:g.146920T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.2031T>C ENSP00000453958.2:p.Ala677=
ENST00000674301.2:c.2031T>C ENSP00000501333.2:p.Ala677=
ENST00000684448.1:n.705T>C
ENST00000316623.10:c.2031T>C MANE Select ENSP00000325527.5:p.Ala677=
ENST00000316623.9:c.2031T>C ENSP00000325527.5:p.Ala677=
ENST00000537463.6:c.637-29219T>C ENSP00000440294.2:n.637-29219T>C
NM_000138.4:c.2031T>C , LRG_778t1:c.2031T>C NP_000129.3:p.Ala677=
NM_000138.5:c.2031T>C MANE Select NP_000129.3:p.Ala677=