Canonical Allele Identifier: CA490022456
Gene: FBN1 HGNC NCBI

Linked Data

dbSNP Id: rs1292712431
gnomAD v2: 15-48737625-C-T
gnomAD v4: 15-48445428-C-T
MyVariant Identifiers: chr15:g.48737625C>T (hg19) chr15:g.48445428C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48445428C>T , CM000677.2:g.48445428C>T GRCh38
NC_000015.9:g.48737625C>T , CM000677.1:g.48737625C>T GRCh37
NC_000015.8:g.46524917C>T NCBI36
NG_008805.2:g.205361G>A , LRG_778:g.205361G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.5865G>A ENSP00000453958.2:p.Gln1955=
ENST00000674301.2:c.5865G>A ENSP00000501333.2:p.Gln1955=
ENST00000684448.1:n.4539G>A
ENST00000316623.10:c.5865G>A MANE Select ENSP00000325527.5:p.Gln1955=
ENST00000674301.1:c.864G>A ENSP00000501333.1:p.Gln288=
ENST00000316623.9:c.5865G>A ENSP00000325527.5:p.Gln1955=
ENST00000537463.6:c.*1628G>A ENSP00000440294.2:n.*1628G>A
ENST00000559133.5:c.1172G>A
NM_000138.4:c.5865G>A , LRG_778t1:c.5865G>A NP_000129.3:p.Gln1955=
NM_000138.5:c.5865G>A MANE Select NP_000129.3:p.Gln1955=
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Search 100 bp 3'