Canonical Allele Identifier: CA490026430
Gene: FBN1 HGNC NCBI
MyVariant.info:
GRCh38 chr15:g.48465580G>T
GRCh37 chr15:g.48757777G>T
gnomAD v2:
15:48757777 G / T
gnomAD v4:
chr15-48465580-G-T
Joint Max Group AF 0.00000124 (NFE)
Exomes Max Group AF 0.00000132 (NFE)
ClinVar Allele:
912806
ClinVar RCV:
RCV001192257
RCV004010587
ClinVar Variation:
928396
dbSNP:
140630
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48465580G>T , CM000677.2:g.48465580G>T GRCh38
NC_000015.9:g.48757777G>T , CM000677.1:g.48757777G>T GRCh37
NC_000015.8:g.46545069G>T NCBI36
NG_008805.2:g.185209C>A , LRG_778:g.185209C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.4930C>A ENSP00000453958.2:p.Arg1644=
ENST00000674301.2:c.4930C>A ENSP00000501333.2:p.Arg1644=
ENST00000684448.1:n.3604C>A
ENST00000316623.10:c.4930C>A MANE Select ENSP00000325527.5:p.Arg1644=
ENST00000316623.9:c.4930C>A ENSP00000325527.5:p.Arg1644=
ENST00000537463.6:c.*693C>A ENSP00000440294.2:n.*693C>A
ENST00000559133.5:c.237C>A
NM_000138.4:c.4930C>A , LRG_778t1:c.4930C>A NP_000129.3:p.Arg1644=
NM_000138.5:c.4930C>A MANE Select NP_000129.3:p.Arg1644=
Search 100 bp 5'
Search 100 bp 3'