Canonical Allele Identifier: CA392325893
Gene: FBN1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr15:g.48714179C>G (hg19) chr15:g.48421982C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48421982C>G , CM000677.2:g.48421982C>G GRCh38
NC_000015.9:g.48714179C>G , CM000677.1:g.48714179C>G GRCh37
NC_000015.8:g.46501471C>G NCBI36
NG_008805.2:g.228807G>C , LRG_778:g.228807G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.*348G>C ENSP00000453958.2:n.*348G>C
ENST00000674301.2:c.*1053G>C ENSP00000501333.2:n.*1053G>C
ENST00000682170.1:n.1721G>C
ENST00000682767.1:n.837G>C
ENST00000316623.10:c.7540G>C MANE Select ENSP00000325527.5:p.Gly2514Arg
ENST00000674301.1:c.2706G>C ENSP00000501333.1:n.2706G>C
ENST00000316623.9:c.7540G>C ENSP00000325527.5:p.Gly2514Arg
ENST00000559133.5:c.2909G>C
NM_000138.4:c.7540G>C , LRG_778t1:c.7540G>C NP_000129.3:p.Gly2514Arg
NM_000138.5:c.7540G>C MANE Select NP_000129.3:p.Gly2514Arg
Search 100 bp 5'
Search 100 bp 3'