Canonical Allele Identifier: CA617832334
Gene: FBN1 HGNC NCBI

Linked Data

dbSNP Id: rs1305569038
gnomAD v2: 15-48701516-G-A
gnomAD v3: 15-48409319-G-A
gnomAD v4: 15-48409319-G-A
MyVariant Identifiers: chr15:g.48701516G>A (hg19) chr15:g.48409319G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48409319G>A , CM000677.2:g.48409319G>A GRCh38
NC_000015.9:g.48701516G>A , CM000677.1:g.48701516G>A GRCh37
NC_000015.8:g.46488808G>A NCBI36
NG_008805.2:g.241470C>T , LRG_778:g.241470C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000682170.1:n.4468C>T
ENST00000682767.1:n.3584C>T
ENST00000316623.10:c.*1671C>T MANE Select ENSP00000325527.5:n.*1671C>T
ENST00000316623.9:c.*1671C>T ENSP00000325527.5:n.*1671C>T
NM_000138.4:c.*1671C>T , LRG_778t1:c.*1671C>T NP_000129.3:n.*1671C>T
NM_000138.5:c.*1671C>T MANE Select NP_000129.3:n.*1671C>T
Search 100 bp 5'
Search 100 bp 3'