Canonical Allele Identifier: CA054105
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 921819
ClinVar RCV Id: RCV001181469
dbSNP Id: rs757202254
ExAC: 15:48756181 T / C
gnomAD v2: 15-48756181-T-C
gnomAD v3: 15-48463984-T-C
gnomAD v4: 15-48463984-T-C
MyVariant Identifiers: chr15:g.48756181T>C (hg19) chr15:g.48463984T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48463984T>C , CM000677.2:g.48463984T>C GRCh38
NC_000015.9:g.48756181T>C , CM000677.1:g.48756181T>C GRCh37
NC_000015.8:g.46543473T>C NCBI36
NG_008805.2:g.186805A>G , LRG_778:g.186805A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000559133.6:c.4980A>G ENSP00000453958.2:p.Pro1660=
ENST00000674301.2:c.4980A>G ENSP00000501333.2:p.Pro1660=
ENST00000684448.1:n.3654A>G
ENST00000316623.10:c.4980A>G MANE Select ENSP00000325527.5:p.Pro1660=
ENST00000316623.9:c.4980A>G ENSP00000325527.5:p.Pro1660=
ENST00000537463.6:c.*743A>G ENSP00000440294.2:n.*743A>G
ENST00000559133.5:c.287A>G
NM_000138.4:c.4980A>G , LRG_778t1:c.4980A>G NP_000129.3:p.Pro1660=
NM_000138.5:c.4980A>G MANE Select NP_000129.3:p.Pro1660=
Search 100 bp 5'
Search 100 bp 3'