Canonical Allele Identifier: CA392337244
Gene: FBN1 HGNC NCBI
MyVariant.info:
GRCh38 chr15:g.48437894C>T
GRCh37 chr15:g.48730091C>T
Revel Score:
ENST00000316623 (MANE Select) 0.372
ENST00000389087 0.372
ENST00000544030 0.372
gnomAD v2:
15:48730091 C / T
gnomAD v3:
15:48437894 C / T
gnomAD v4:
chr15-48437894-C-T
Joint Max Group AF 0.00000292 (NFE)
Exomes Max Group AF 0.00000262 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48437894C>T , CM000677.2:g.48437894C>T GRCh38
NC_000015.9:g.48730091C>T , CM000677.1:g.48730091C>T GRCh37
NC_000015.8:g.46517383C>T NCBI36
NG_008805.2:g.212895G>A , LRG_778:g.212895G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.6187G>A ENSP00000453958.2:p.Ala2063Thr
ENST00000674301.2:c.6187G>A ENSP00000501333.2:p.Ala2063Thr
ENST00000316623.10:c.6187G>A MANE Select ENSP00000325527.5:p.Ala2063Thr
ENST00000674301.1:c.1186G>A ENSP00000501333.1:p.Ala396Thr
ENST00000316623.9:c.6187G>A ENSP00000325527.5:p.Ala2063Thr
ENST00000537463.6:c.*1950G>A ENSP00000440294.2:n.*1950G>A
ENST00000559133.5:c.1494G>A
ENST00000560820.1:n.307G>A
NM_000138.4:c.6187G>A , LRG_778t1:c.6187G>A NP_000129.3:p.Ala2063Thr
NM_000138.5:c.6187G>A MANE Select NP_000129.3:p.Ala2063Thr
Search 100 bp 5'
Search 100 bp 3'