Canonical Allele Identifier: CA016165
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 199950
ClinVar RCV Id: RCV000181407 RCV000270358 RCV000271534 RCV000311237 RCV000322623 RCV000328941 RCV000362544 RCV000368202 RCV000389993 RCV000688484
dbSNP Id: rs202158568
ExAC: 15:48737570 T / C
gnomAD v2: 15-48737570-T-C
gnomAD v3: 15-48445373-T-C
gnomAD v4: 15-48445373-T-C
MyVariant Identifiers: chr15:g.48737570T>C (hg19) chr15:g.48445373T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48445373T>C , CM000677.2:g.48445373T>C GRCh38
NC_000015.9:g.48737570T>C , CM000677.1:g.48737570T>C GRCh37
NC_000015.8:g.46524862T>C NCBI36
NG_008805.2:g.205416A>G , LRG_778:g.205416A>G

Transcript Alleles

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