Canonical Allele Identifier: CA713383732
Gene: FBN1 HGNC NCBI

Linked Data

dbSNP Id: rs1396951343
MyVariant Identifiers: chr15:g.48777430G>A (hg19) chr15:g.48485233G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48485233G>A , CM000677.2:g.48485233G>A GRCh38
NC_000015.9:g.48777430G>A , CM000677.1:g.48777430G>A GRCh37
NC_000015.8:g.46564722G>A NCBI36
NG_008805.2:g.165556C>T , LRG_778:g.165556C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.3712+141C>T ENSP00000453958.2:n.3712+141C>T
ENST00000674301.2:c.3712+141C>T ENSP00000501333.2:n.3712+141C>T
ENST00000684448.1:n.2386+141C>T
ENST00000316623.10:c.3712+141C>T MANE Select ENSP00000325527.5:n.3712+141C>T
ENST00000316623.9:c.3712+141C>T ENSP00000325527.5:n.3712+141C>T
ENST00000537463.6:c.637-10583C>T ENSP00000440294.2:n.637-10583C>T
NM_000138.4:c.3712+141C>T , LRG_778t1:c.3712+141C>T NP_000129.3:n.3712+141C>T
NM_000138.5:c.3712+141C>T MANE Select NP_000129.3:n.3712+141C>T
Search 100 bp 5'
Search 100 bp 3'