Canonical Allele Identifier: CA050975
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 925456
ClinVar RCV Id: RCV001187422
dbSNP Id: rs768688637
ExAC: 15:48779357 A / G
gnomAD v2: 15-48779357-A-G
gnomAD v3: 15-48487160-A-G
gnomAD v4: 15-48487160-A-G
MyVariant Identifiers: chr15:g.48779357A>G (hg19) chr15:g.48487160A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48487160A>G , CM000677.2:g.48487160A>G GRCh38
NC_000015.9:g.48779357A>G , CM000677.1:g.48779357A>G GRCh37
NC_000015.8:g.46566649A>G NCBI36
NG_008805.2:g.163629T>C , LRG_778:g.163629T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000559133.6:c.3504T>C ENSP00000453958.2:p.Asn1168=
ENST00000674301.2:c.3504T>C ENSP00000501333.2:p.Asn1168=
ENST00000684448.1:n.2178T>C
ENST00000316623.10:c.3504T>C MANE Select ENSP00000325527.5:p.Asn1168=
ENST00000316623.9:c.3504T>C ENSP00000325527.5:p.Asn1168=
ENST00000537463.6:c.637-12510T>C ENSP00000440294.2:n.637-12510T>C
NM_000138.4:c.3504T>C , LRG_778t1:c.3504T>C NP_000129.3:p.Asn1168=
NM_000138.5:c.3504T>C MANE Select NP_000129.3:p.Asn1168=
Search 100 bp 5'
Search 100 bp 3'