Canonical Allele Identifier: CA048536
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 457178
ClinVar RCV Id: RCV001176065 RCV001400072 RCV004003781
dbSNP Id: rs781062880
ExAC: 15:48786408 T / C
gnomAD v2: 15-48786408-T-C
gnomAD v4: 15-48494211-T-C
MyVariant Identifiers: chr15:g.48786408T>C (hg19) chr15:g.48494211T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48494211T>C , CM000677.2:g.48494211T>C GRCh38
NC_000015.9:g.48786408T>C , CM000677.1:g.48786408T>C GRCh37
NC_000015.8:g.46573700T>C NCBI36
NG_008805.2:g.156578A>G , LRG_778:g.156578A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.2721A>G ENSP00000453958.2:p.Gln907=
ENST00000674301.2:c.2721A>G ENSP00000501333.2:p.Gln907=
ENST00000684448.1:n.1395A>G
ENST00000316623.10:c.2721A>G MANE Select ENSP00000325527.5:p.Gln907=
ENST00000316623.9:c.2721A>G ENSP00000325527.5:p.Gln907=
ENST00000537463.6:c.637-19561A>G ENSP00000440294.2:n.637-19561A>G
NM_000138.4:c.2721A>G , LRG_778t1:c.2721A>G NP_000129.3:p.Gln907=
NM_000138.5:c.2721A>G MANE Select NP_000129.3:p.Gln907=
Search 100 bp 5'
Search 100 bp 3'