Canonical Allele Identifier: CA056253
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 724608
ClinVar RCV Id: RCV000898550 RCV001176918 RCV001759665
dbSNP Id: rs556131403
ExAC: 15:48733971 T / C
gnomAD v2: 15-48733971-T-C
gnomAD v3: 15-48441774-T-C
gnomAD v4: 15-48441774-T-C
MyVariant Identifiers: chr15:g.48733971T>C (hg19) chr15:g.48441774T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48441774T>C , CM000677.2:g.48441774T>C GRCh38
NC_000015.9:g.48733971T>C , CM000677.1:g.48733971T>C GRCh37
NC_000015.8:g.46521263T>C NCBI36
NG_008805.2:g.209015A>G , LRG_778:g.209015A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000559133.6:c.6110A>G ENSP00000453958.2:p.Lys2037Arg
ENST00000674301.2:c.6110A>G ENSP00000501333.2:p.Lys2037Arg
ENST00000316623.10:c.6110A>G MANE Select ENSP00000325527.5:p.Lys2037Arg
ENST00000674301.1:c.1109A>G ENSP00000501333.1:p.Lys370Arg
ENST00000316623.9:c.6110A>G ENSP00000325527.5:p.Lys2037Arg
ENST00000537463.6:c.*1873A>G ENSP00000440294.2:n.*1873A>G
ENST00000559133.5:c.1417A>G
ENST00000560820.1:n.230A>G
NM_000138.4:c.6110A>G , LRG_778t1:c.6110A>G NP_000129.3:p.Lys2037Arg
NM_000138.5:c.6110A>G MANE Select NP_000129.3:p.Lys2037Arg
Search 100 bp 5'
Search 100 bp 3'