Canonical Allele Identifier: CA051344
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 928219
ClinVar RCV Id: RCV001191991 RCV003320810 RCV002560135 RCV003448374
dbSNP Id: rs759424465
ExAC: 15:48777595 T / G
gnomAD v2: 15-48777595-T-G
gnomAD v4: 15-48485398-T-G
MyVariant Identifiers: chr15:g.48777595T>G (hg19) chr15:g.48485398T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48485398T>G , CM000677.2:g.48485398T>G GRCh38
NC_000015.9:g.48777595T>G , CM000677.1:g.48777595T>G GRCh37
NC_000015.8:g.46564887T>G NCBI36
NG_008805.2:g.165391A>C , LRG_778:g.165391A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.3688A>C ENSP00000453958.2:p.Met1230Leu
ENST00000674301.2:c.3688A>C ENSP00000501333.2:p.Met1230Leu
ENST00000684448.1:n.2362A>C
ENST00000316623.10:c.3688A>C MANE Select ENSP00000325527.5:p.Met1230Leu
ENST00000316623.9:c.3688A>C ENSP00000325527.5:p.Met1230Leu
ENST00000537463.6:c.637-10748A>C ENSP00000440294.2:n.637-10748A>C
NM_000138.4:c.3688A>C , LRG_778t1:c.3688A>C NP_000129.3:p.Met1230Leu
NM_000138.5:c.3688A>C MANE Select NP_000129.3:p.Met1230Leu
Search 100 bp 5'
Search 100 bp 3'