Canonical Allele Identifier: CA052099
Gene: FBN1 HGNC NCBI

Linked Data

dbSNP Id: rs761971121
ExAC: 15:48766553 C / T
gnomAD v2: 15-48766553-C-T
gnomAD v4: 15-48474356-C-T
MyVariant Identifiers: chr15:g.48766553C>T (hg19) chr15:g.48474356C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48474356C>T , CM000677.2:g.48474356C>T GRCh38
NC_000015.9:g.48766553C>T , CM000677.1:g.48766553C>T GRCh37
NC_000015.8:g.46553845C>T NCBI36
NG_008805.2:g.176433G>A , LRG_778:g.176433G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.4109G>A ENSP00000453958.2:p.Gly1370Glu
ENST00000674301.2:c.4109G>A ENSP00000501333.2:p.Gly1370Glu
ENST00000684448.1:n.2783G>A
ENST00000316623.10:c.4109G>A MANE Select ENSP00000325527.5:p.Gly1370Glu
ENST00000316623.9:c.4109G>A ENSP00000325527.5:p.Gly1370Glu
ENST00000537463.6:c.781G>A ENSP00000440294.2:p.Glu261Lys
NM_000138.4:c.4109G>A , LRG_778t1:c.4109G>A NP_000129.3:p.Gly1370Glu
NM_000138.5:c.4109G>A MANE Select NP_000129.3:p.Gly1370Glu
Search 100 bp 5'
Search 100 bp 3'