Canonical Allele Identifier: CA269532535
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1191723
ClinVar RCV Id: RCV001552907
dbSNP Id: rs527977897
gnomAD v2: 15-48737365-A-G
gnomAD v3: 15-48445168-A-G
gnomAD v4: 15-48445168-A-G
MyVariant Identifiers: chr15:g.48737365A>G (hg19) chr15:g.48445168A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48445168A>G , CM000677.2:g.48445168A>G GRCh38
NC_000015.9:g.48737365A>G , CM000677.1:g.48737365A>G GRCh37
NC_000015.8:g.46524657A>G NCBI36
NG_008805.2:g.205621T>C , LRG_778:g.205621T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.5917+208T>C ENSP00000453958.2:n.5917+208T>C
ENST00000674301.2:c.5917+208T>C ENSP00000501333.2:n.5917+208T>C
ENST00000684448.1:n.4591+208T>C
ENST00000316623.10:c.5917+208T>C MANE Select ENSP00000325527.5:n.5917+208T>C
ENST00000674301.1:c.916+208T>C ENSP00000501333.1:n.916+208T>C
ENST00000316623.9:c.5917+208T>C ENSP00000325527.5:n.5917+208T>C
ENST00000537463.6:c.*1680+208T>C ENSP00000440294.2:n.*1680+208T>C
ENST00000559133.5:c.1224+208T>C
ENST00000560820.1:n.37+208T>C
NM_000138.4:c.5917+208T>C , LRG_778t1:c.5917+208T>C NP_000129.3:n.5917+208T>C
NM_000138.5:c.5917+208T>C MANE Select NP_000129.3:n.5917+208T>C
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