Canonical Allele Identifier: CA014660
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 36072
ClinVar RCV Id: RCV000035183 RCV000029734 RCV000263228 RCV000273766 RCV000229052 RCV000353387 RCV000368347 RCV000382616 RCV000333438 RCV001811208 RCV002276586
dbSNP Id: rs140637
ExAC: 15:48766855 A / G
gnomAD v2: 15-48766855-A-G
gnomAD v3: 15-48474658-A-G
gnomAD v4: 15-48474658-A-G
MyVariant Identifiers: chr15:g.48766855A>G (hg19) chr15:g.48474658A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48474658A>G , CM000677.2:g.48474658A>G GRCh38
NC_000015.9:g.48766855A>G , CM000677.1:g.48766855A>G GRCh37
NC_000015.8:g.46554147A>G NCBI36
NG_008805.2:g.176131T>C , LRG_778:g.176131T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.3965-8T>C ENSP00000453958.2:n.3965-8T>C
ENST00000674301.2:c.3965-8T>C ENSP00000501333.2:n.3965-8T>C
ENST00000684448.1:n.2639-8T>C
ENST00000316623.10:c.3965-8T>C MANE Select ENSP00000325527.5:n.3965-8T>C
ENST00000316623.9:c.3965-8T>C ENSP00000325527.5:n.3965-8T>C
ENST00000537463.6:c.637-8T>C ENSP00000440294.2:n.637-8T>C
NM_000138.4:c.3965-8T>C , LRG_778t1:c.3965-8T>C NP_000129.3:n.3965-8T>C
NM_000138.5:c.3965-8T>C MANE Select NP_000129.3:n.3965-8T>C
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