Canonical Allele Identifier: CA057415
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2053697
ClinVar RCV Id: RCV002919135
dbSNP Id: rs745366819
ExAC: 15:48722953 T / C
gnomAD v2: 15-48722953-T-C
gnomAD v4: 15-48430756-T-C
MyVariant Identifiers: chr15:g.48722953T>C (hg19) chr15:g.48430756T>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48430756T>C , CM000677.2:g.48430756T>C GRCh38
NC_000015.9:g.48722953T>C , CM000677.1:g.48722953T>C GRCh37
NC_000015.8:g.46510245T>C NCBI36
NG_008805.2:g.220033A>G , LRG_778:g.220033A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.6786A>G ENSP00000453958.2:p.Gln2262=
ENST00000674301.2:c.*237A>G ENSP00000501333.2:n.*237A>G
ENST00000682170.1:n.395A>G
ENST00000316623.10:c.6786A>G MANE Select ENSP00000325527.5:p.Gln2262=
ENST00000674301.1:c.1890A>G ENSP00000501333.1:n.1890A>G
ENST00000316623.9:c.6786A>G ENSP00000325527.5:p.Gln2262=
ENST00000559133.5:c.2093A>G
ENST00000560720.1:n.73A>G
NM_000138.4:c.6786A>G , LRG_778t1:c.6786A>G NP_000129.3:p.Gln2262=
NM_000138.5:c.6786A>G MANE Select NP_000129.3:p.Gln2262=
Search 100 bp 5'
Search 100 bp 3'