Canonical Allele Identifier: CA056624

Gene: FBN1

Linked Data

• ClinVar Variation Id: 413894
• ClinVar RCV Id: RCV000466674 ; RCV001000466 ; RCV001177369 ; RCV001856809 ; RCV004539996 ; RCV004002116
• dbSNP Id: rs374705586
• ExAC: 15:48729556 T / G
• gnomAD v2: 15-48729556-T-G
• gnomAD v3: 15-48437359-T-G
• gnomAD v4: 15-48437359-T-G
• MyVariant Identifiers: chr15:g.48729556T>G (hg19) ; chr15:g.48437359T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48437359T>G , CM000677.2:g.48437359T>G	GRCh38
NC_000015.9:g.48729556T>G , CM000677.1:g.48729556T>G	GRCh37
NC_000015.8:g.46516848T>G	NCBI36
NG_008805.2:g.213430A>C , LRG_778:g.213430A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.6342A>C	ENSP00000453958.2:p.Gly2114=
ENST00000674301.2:c.6342A>C	ENSP00000501333.2:p.Gly2114=
ENST00000316623.10:c.6342A>C MANE Select	ENSP00000325527.5:p.Gly2114=
ENST00000674301.1:c.1341A>C	ENSP00000501333.1:p.Gly447=
ENST00000316623.9:c.6342A>C	ENSP00000325527.5:p.Gly2114=
ENST00000537463.6:c.*2105A>C	ENSP00000440294.2:n.*2105A>C
ENST00000559133.5:c.1649A>C
NM_000138.4:c.6342A>C , LRG_778t1:c.6342A>C	NP_000129.3:p.Gly2114=
NM_000138.5:c.6342A>C MANE Select	NP_000129.3:p.Gly2114=