Canonical Allele Identifier: CA269536059
Gene: FBN1 HGNC NCBI

Linked Data

dbSNP Id: rs1025890253
gnomAD v3: 15-48492699-C-G
gnomAD v4: 15-48492699-C-G
MyVariant Identifiers: chr15:g.48784896C>G (hg19) chr15:g.48492699C>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48492699C>G , CM000677.2:g.48492699C>G GRCh38
NC_000015.9:g.48784896C>G , CM000677.1:g.48784896C>G GRCh37
NC_000015.8:g.46572188C>G NCBI36
NG_008805.2:g.158090G>C , LRG_778:g.158090G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.2729-113G>C ENSP00000453958.2:n.2729-113G>C
ENST00000674301.2:c.2729-113G>C ENSP00000501333.2:n.2729-113G>C
ENST00000684448.1:n.1403-113G>C
ENST00000316623.10:c.2729-113G>C MANE Select ENSP00000325527.5:n.2729-113G>C
ENST00000316623.9:c.2729-113G>C ENSP00000325527.5:n.2729-113G>C
ENST00000537463.6:c.637-18049G>C ENSP00000440294.2:n.637-18049G>C
NM_000138.4:c.2729-113G>C , LRG_778t1:c.2729-113G>C NP_000129.3:n.2729-113G>C
NM_000138.5:c.2729-113G>C MANE Select NP_000129.3:n.2729-113G>C
Search 100 bp 5'
Search 100 bp 3'