Canonical Allele Identifier: CA392341191
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 495629
ClinVar RCV Id: RCV000589788 RCV000663814 RCV001240585 RCV004024673
dbSNP Id: rs1555395826
MyVariant Identifiers: chr15:g.48738948G>A (hg19) chr15:g.48446751G>A (hg38)
ERepo: CA392341191/MONDO:0007947/022
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48446751G>A , CM000677.2:g.48446751G>A GRCh38
NC_000015.9:g.48738948G>A , CM000677.1:g.48738948G>A GRCh37
NC_000015.8:g.46526240G>A NCBI36
NG_008805.2:g.204038C>T , LRG_778:g.204038C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.5743C>T ENSP00000453958.2:p.Arg1915Cys
ENST00000674301.2:c.5743C>T ENSP00000501333.2:p.Arg1915Cys
ENST00000684448.1:n.4417C>T
ENST00000316623.10:c.5743C>T MANE Select ENSP00000325527.5:p.Arg1915Cys
ENST00000674301.1:c.742C>T ENSP00000501333.1:p.Arg248Cys
ENST00000316623.9:c.5743C>T ENSP00000325527.5:p.Arg1915Cys
ENST00000537463.6:c.*1506C>T ENSP00000440294.2:n.*1506C>T
ENST00000559133.5:c.1050C>T
NM_000138.4:c.5743C>T , LRG_778t1:c.5743C>T NP_000129.3:p.Arg1915Cys
NM_000138.5:c.5743C>T MANE Select NP_000129.3:p.Arg1915Cys
Search 100 bp 5'
Search 100 bp 3'