Canonical Allele Identifier: CA016669
Gene: FBN1 HGNC NCBI
MyVariant.info:
GRCh38 chr15:g.48432905C>T
GRCh37 chr15:g.48725102C>T
Revel Score:
ENST00000316623 (MANE Select) 0.602
ENST00000389087 0.602
ENST00000544030 0.602
gnomAD v2:
15:48725102 C / T
gnomAD v3:
15:48432905 C / T
gnomAD v4:
chr15-48432905-C-T
Joint Max Group AF 0.00139421 (NFE)
Genomes Max Group AF 0.00094146 (NFE)
Exomes Max Group AF 0.00141122 (NFE)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48432905C>T , CM000677.2:g.48432905C>T GRCh38
NC_000015.9:g.48725102C>T , CM000677.1:g.48725102C>T GRCh37
NC_000015.8:g.46512394C>T NCBI36
NG_008805.2:g.217884G>A , LRG_778:g.217884G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.6700G>A ENSP00000453958.2:p.Val2234Met
ENST00000674301.2:c.*151G>A ENSP00000501333.2:n.*151G>A
ENST00000682170.1:n.309G>A
ENST00000316623.10:c.6700G>A MANE Select ENSP00000325527.5:p.Val2234Met
ENST00000674301.1:c.1804G>A ENSP00000501333.1:n.1804G>A
ENST00000316623.9:c.6700G>A ENSP00000325527.5:p.Val2234Met
ENST00000537463.6:c.*2463G>A ENSP00000440294.2:n.*2463G>A
ENST00000559133.5:c.2007G>A
NM_000138.4:c.6700G>A , LRG_778t1:c.6700G>A NP_000129.3:p.Val2234Met
NM_000138.5:c.6700G>A MANE Select NP_000129.3:p.Val2234Met
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