Canonical Allele Identifier: CA617832326
Gene: FBN1 HGNC NCBI

Linked Data

dbSNP Id: rs1303849606
gnomAD v2: 15-48701161-C-T
gnomAD v3: 15-48408964-C-T
gnomAD v4: 15-48408964-C-T
MyVariant Identifiers: chr15:g.48701161C>T (hg19) chr15:g.48408964C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48408964C>T , CM000677.2:g.48408964C>T GRCh38
NC_000015.9:g.48701161C>T , CM000677.1:g.48701161C>T GRCh37
NC_000015.8:g.46488453C>T NCBI36
NG_008805.2:g.241825G>A , LRG_778:g.241825G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000682170.1:n.4823G>A
ENST00000682767.1:n.3939G>A
ENST00000316623.10:c.*2026G>A MANE Select ENSP00000325527.5:n.*2026G>A
ENST00000316623.9:c.*2026G>A ENSP00000325527.5:n.*2026G>A
NM_000138.4:c.*2026G>A , LRG_778t1:c.*2026G>A NP_000129.3:n.*2026G>A
NM_000138.5:c.*2026G>A MANE Select NP_000129.3:n.*2026G>A
Search 100 bp 5'
Search 100 bp 3'