Canonical Allele Identifier: CA392340072
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 3074354
ClinVar RCV Id: RCV004012896
gnomAD v4: 15-48445445-T-C
MyVariant Identifiers: chr15:g.48737642T>C (hg19) chr15:g.48445445T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48445445T>C , CM000677.2:g.48445445T>C GRCh38
NC_000015.9:g.48737642T>C , CM000677.1:g.48737642T>C GRCh37
NC_000015.8:g.46524934T>C NCBI36
NG_008805.2:g.205344A>G , LRG_778:g.205344A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.5848A>G ENSP00000453958.2:p.Thr1950Ala
ENST00000674301.2:c.5848A>G ENSP00000501333.2:p.Thr1950Ala
ENST00000684448.1:n.4522A>G
ENST00000316623.10:c.5848A>G MANE Select ENSP00000325527.5:p.Thr1950Ala
ENST00000674301.1:c.847A>G ENSP00000501333.1:p.Thr283Ala
ENST00000316623.9:c.5848A>G ENSP00000325527.5:p.Thr1950Ala
ENST00000537463.6:c.*1611A>G ENSP00000440294.2:n.*1611A>G
ENST00000559133.5:c.1155A>G
NM_000138.4:c.5848A>G , LRG_778t1:c.5848A>G NP_000129.3:p.Thr1950Ala
NM_000138.5:c.5848A>G MANE Select NP_000129.3:p.Thr1950Ala
Search 100 bp 5'
Search 100 bp 3'