Canonical Allele Identifier: CA392324001

Gene: FBN1

Linked Data

• ClinVar Variation Id: 429308
• ClinVar RCV Id: RCV000493128 ; RCV002245991
• dbSNP Id: rs1131691311
• MyVariant Identifiers: chr15:g.48776096G>A (hg19) ; chr15:g.48483899G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48483899G>A , CM000677.2:g.48483899G>A	GRCh38
NC_000015.9:g.48776096G>A , CM000677.1:g.48776096G>A	GRCh37
NC_000015.8:g.46563388G>A	NCBI36
NG_008805.2:g.166890C>T , LRG_778:g.166890C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.3757C>T	ENSP00000453958.2:p.Gln1253Ter
ENST00000674301.2:c.3757C>T	ENSP00000501333.2:p.Gln1253Ter
ENST00000684448.1:n.2431C>T
ENST00000316623.10:c.3757C>T MANE Select	ENSP00000325527.5:p.Gln1253Ter
ENST00000316623.9:c.3757C>T	ENSP00000325527.5:p.Gln1253Ter
ENST00000537463.6:c.637-9249C>T	ENSP00000440294.2:n.637-9249C>T
NM_000138.4:c.3757C>T , LRG_778t1:c.3757C>T	NP_000129.3:p.Gln1253Ter
NM_000138.5:c.3757C>T MANE Select	NP_000129.3:p.Gln1253Ter