Canonical Allele Identifier: CA269532771
Gene: FBN1 HGNC NCBI

Linked Data

dbSNP Id: rs996420753
gnomAD v3: 15-48445346-T-C
gnomAD v4: 15-48445346-T-C
MyVariant Identifiers: chr15:g.48737543T>C (hg19) chr15:g.48445346T>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48445346T>C , CM000677.2:g.48445346T>C GRCh38
NC_000015.9:g.48737543T>C , CM000677.1:g.48737543T>C GRCh37
NC_000015.8:g.46524835T>C NCBI36
NG_008805.2:g.205443A>G , LRG_778:g.205443A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.5917+30A>G ENSP00000453958.2:n.5917+30A>G
ENST00000674301.2:c.5917+30A>G ENSP00000501333.2:n.5917+30A>G
ENST00000684448.1:n.4591+30A>G
ENST00000316623.10:c.5917+30A>G MANE Select ENSP00000325527.5:n.5917+30A>G
ENST00000674301.1:c.916+30A>G ENSP00000501333.1:n.916+30A>G
ENST00000316623.9:c.5917+30A>G ENSP00000325527.5:n.5917+30A>G
ENST00000537463.6:c.*1680+30A>G ENSP00000440294.2:n.*1680+30A>G
ENST00000559133.5:c.1224+30A>G
ENST00000560820.1:n.37+30A>G
NM_000138.4:c.5917+30A>G , LRG_778t1:c.5917+30A>G NP_000129.3:n.5917+30A>G
NM_000138.5:c.5917+30A>G MANE Select NP_000129.3:n.5917+30A>G
Search 100 bp 5'
Search 100 bp 3'