Canonical Allele Identifier: CA2175485403
Gene: FBN1 HGNC NCBI

Linked Data

dbSNP Id: rs2042848222
gnomAD v3: 15-48410067-A-C
gnomAD v4: 15-48410067-A-C
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48410067A>C , CM000677.2:g.48410067A>C GRCh38
NC_000015.9:g.48702264A>C , CM000677.1:g.48702264A>C GRCh37
NC_000015.8:g.46489556A>C NCBI36
NG_008805.2:g.240722T>G , LRG_778:g.240722T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000682170.1:n.3720T>G
ENST00000682767.1:n.2836T>G
ENST00000316623.10:c.*923T>G MANE Select ENSP00000325527.5:n.*923T>G
ENST00000316623.9:c.*923T>G ENSP00000325527.5:n.*923T>G
NM_000138.4:c.*923T>G , LRG_778t1:c.*923T>G NP_000129.3:n.*923T>G
NM_000138.5:c.*923T>G MANE Select NP_000129.3:n.*923T>G
Search 100 bp 5'
Search 100 bp 3'