Canonical Allele Identifier: CA490017344
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1332217
ClinVar RCV Id: RCV001805263 RCV002541422
dbSNP Id: rs1364910158
gnomAD v2: 15-48777590-A-G
gnomAD v4: 15-48485393-A-G
MyVariant Identifiers: chr15:g.48777590A>G (hg19) chr15:g.48485393A>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48485393A>G , CM000677.2:g.48485393A>G GRCh38
NC_000015.9:g.48777590A>G , CM000677.1:g.48777590A>G GRCh37
NC_000015.8:g.46564882A>G NCBI36
NG_008805.2:g.165396T>C , LRG_778:g.165396T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.3693T>C ENSP00000453958.2:p.Pro1231=
ENST00000674301.2:c.3693T>C ENSP00000501333.2:p.Pro1231=
ENST00000684448.1:n.2367T>C
ENST00000316623.10:c.3693T>C MANE Select ENSP00000325527.5:p.Pro1231=
ENST00000316623.9:c.3693T>C ENSP00000325527.5:p.Pro1231=
ENST00000537463.6:c.637-10743T>C ENSP00000440294.2:n.637-10743T>C
NM_000138.4:c.3693T>C , LRG_778t1:c.3693T>C NP_000129.3:p.Pro1231=
NM_000138.5:c.3693T>C MANE Select NP_000129.3:p.Pro1231=
Search 100 bp 5'
Search 100 bp 3'