Canonical Allele Identifier: CA052135
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 547319
ClinVar RCV Id: RCV000659540 RCV000817718 RCV001180615 RCV001374761 RCV002285393 RCV002485503
dbSNP Id: rs749196340
ExAC: 15:48766499 C / T
gnomAD v2: 15-48766499-C-T
gnomAD v3: 15-48474302-C-T
gnomAD v4: 15-48474302-C-T
MyVariant Identifiers: chr15:g.48766499C>T (hg19) chr15:g.48474302C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48474302C>T , CM000677.2:g.48474302C>T GRCh38
NC_000015.9:g.48766499C>T , CM000677.1:g.48766499C>T GRCh37
NC_000015.8:g.46553791C>T NCBI36
NG_008805.2:g.176487G>A , LRG_778:g.176487G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.4163G>A ENSP00000453958.2:p.Arg1388His
ENST00000674301.2:c.4163G>A ENSP00000501333.2:p.Arg1388His
ENST00000684448.1:n.2837G>A
ENST00000316623.10:c.4163G>A MANE Select ENSP00000325527.5:p.Arg1388His
ENST00000316623.9:c.4163G>A ENSP00000325527.5:p.Arg1388His
ENST00000537463.6:c.835G>A ENSP00000440294.2:p.Ala279Thr
NM_000138.4:c.4163G>A , LRG_778t1:c.4163G>A NP_000129.3:p.Arg1388His
NM_000138.5:c.4163G>A MANE Select NP_000129.3:p.Arg1388His
Search 100 bp 5'
Search 100 bp 3'