Canonical Allele Identifier: CA392320292
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 920777
ClinVar RCV Id: RCV001179732
dbSNP Id: rs1180794278
gnomAD v2: 15-48766534-C-A
gnomAD v4: 15-48474337-C-A
MyVariant Identifiers: chr15:g.48766534C>A (hg19) chr15:g.48474337C>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48474337C>A , CM000677.2:g.48474337C>A GRCh38
NC_000015.9:g.48766534C>A , CM000677.1:g.48766534C>A GRCh37
NC_000015.8:g.46553826C>A NCBI36
NG_008805.2:g.176452G>T , LRG_778:g.176452G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.4128G>T ENSP00000453958.2:p.Gln1376His
ENST00000674301.2:c.4128G>T ENSP00000501333.2:p.Gln1376His
ENST00000684448.1:n.2802G>T
ENST00000316623.10:c.4128G>T MANE Select ENSP00000325527.5:p.Gln1376His
ENST00000316623.9:c.4128G>T ENSP00000325527.5:p.Gln1376His
ENST00000537463.6:c.800G>T ENSP00000440294.2:p.Ser267Ile
NM_000138.4:c.4128G>T , LRG_778t1:c.4128G>T NP_000129.3:p.Gln1376His
NM_000138.5:c.4128G>T MANE Select NP_000129.3:p.Gln1376His
Search 100 bp 5'
Search 100 bp 3'