Canonical Allele Identifier: CA969578379
Gene: FBN1 HGNC NCBI

Linked Data

dbSNP Id: rs2042839934
gnomAD v3: 15-48408957-T-A
gnomAD v4: 15-48408957-T-A
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48408957T>A , CM000677.2:g.48408957T>A GRCh38
NC_000015.9:g.48701154T>A , CM000677.1:g.48701154T>A GRCh37
NC_000015.8:g.46488446T>A NCBI36
NG_008805.2:g.241832A>T , LRG_778:g.241832A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000682170.1:n.4830A>T
ENST00000682767.1:n.3946A>T
ENST00000316623.10:c.*2033A>T MANE Select ENSP00000325527.5:n.*2033A>T
ENST00000316623.9:c.*2033A>T ENSP00000325527.5:n.*2033A>T
NM_000138.4:c.*2033A>T , LRG_778t1:c.*2033A>T NP_000129.3:n.*2033A>T
NM_000138.5:c.*2033A>T MANE Select NP_000129.3:n.*2033A>T
Search 100 bp 5'
Search 100 bp 3'