Canonical Allele Identifier: CA269518337
Gene: FBN1 HGNC NCBI

Linked Data

dbSNP Id: rs970488736
gnomAD v3: 15-48408560-A-G
gnomAD v4: 15-48408560-A-G
MyVariant Identifiers: chr15:g.48700757A>G (hg19) chr15:g.48408560A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48408560A>G , CM000677.2:g.48408560A>G GRCh38
NC_000015.9:g.48700757A>G , CM000677.1:g.48700757A>G GRCh37
NC_000015.8:g.46488049A>G NCBI36
NG_008805.2:g.242229T>C , LRG_778:g.242229T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000682170.1:n.5227T>C
ENST00000682767.1:n.4343T>C
ENST00000316623.10:c.*2430T>C MANE Select ENSP00000325527.5:n.*2430T>C
ENST00000316623.9:c.*2430T>C ENSP00000325527.5:n.*2430T>C
NM_000138.4:c.*2430T>C , LRG_778t1:c.*2430T>C NP_000129.3:n.*2430T>C
NM_000138.5:c.*2430T>C MANE Select NP_000129.3:n.*2430T>C
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