Canonical Allele Identifier: CA392453395

Gene: FBN1

Linked Data

• ClinVar Variation Id: 549032
• ClinVar RCV Id: RCV000663477
• dbSNP Id: rs794728213
• MyVariant Identifiers: chr15:g.48936802C>A (hg19) ; chr15:g.48644605C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48644605C>A , CM000677.2:g.48644605C>A	GRCh38
NC_000015.9:g.48936802C>A , CM000677.1:g.48936802C>A	GRCh37
NC_000015.8:g.46724094C>A	NCBI36
NG_008805.2:g.6184G>T , LRG_778:g.6184G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000559133.6:c.164+1G>T	ENSP00000453958.2:n.164+1G>T
ENST00000674301.2:c.164+1G>T	ENSP00000501333.2:n.164+1G>T
ENST00000316623.10:c.164+1G>T MANE Select	ENSP00000325527.5:n.164+1G>T
ENST00000316623.9:c.164+1G>T	ENSP00000325527.5:n.164+1G>T
ENST00000537463.6:c.164+1G>T	ENSP00000440294.2:n.164+1G>T
ENST00000558230.1:n.227+1G>T
ENST00000560355.1:c.165G>T	ENSP00000453901.1:p.Gly55=
NM_000138.4:c.164+1G>T , LRG_778t1:c.164+1G>T	NP_000129.3:n.164+1G>T
NM_000138.5:c.164+1G>T MANE Select	NP_000129.3:n.164+1G>T