Canonical Allele Identifier: CA969559549
Gene: FBN1 HGNC NCBI

Linked Data

dbSNP Id: rs2043587320
gnomAD v3: 15-48494474-T-C
gnomAD v4: 15-48494474-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48494474T>C , CM000677.2:g.48494474T>C GRCh38
NC_000015.9:g.48786671T>C , CM000677.1:g.48786671T>C GRCh37
NC_000015.8:g.46573963T>C NCBI36
NG_008805.2:g.156315A>G , LRG_778:g.156315A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.2678-220A>G ENSP00000453958.2:n.2678-220A>G
ENST00000674301.2:c.2678-220A>G ENSP00000501333.2:n.2678-220A>G
ENST00000684448.1:n.1352-220A>G
ENST00000316623.10:c.2678-220A>G MANE Select ENSP00000325527.5:n.2678-220A>G
ENST00000316623.9:c.2678-220A>G ENSP00000325527.5:n.2678-220A>G
ENST00000537463.6:c.637-19824A>G ENSP00000440294.2:n.637-19824A>G
NM_000138.4:c.2678-220A>G , LRG_778t1:c.2678-220A>G NP_000129.3:n.2678-220A>G
NM_000138.5:c.2678-220A>G MANE Select NP_000129.3:n.2678-220A>G
Search 100 bp 5'
Search 100 bp 3'