Canonical Allele Identifier: CA014543

Gene: FBN1

Linked Data

• ClinVar Variation Id: 42342
• ClinVar RCV Id: RCV000035180 ; RCV000632036 ; RCV001188103 ; RCV003996187 ; RCV001636618
• dbSNP Id: rs149611106
• ExAC: 15:48892400 T / C
• gnomAD v2: 15-48892400-T-C
• gnomAD v3: 15-48600203-T-C
• gnomAD v4: 15-48600203-T-C
• MyVariant Identifiers: chr15:g.48892400T>C (hg19) ; chr15:g.48600203T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48600203T>C , CM000677.2:g.48600203T>C	GRCh38
NC_000015.9:g.48892400T>C , CM000677.1:g.48892400T>C	GRCh37
NC_000015.8:g.46679692T>C	NCBI36
NG_008805.2:g.50586A>G , LRG_778:g.50586A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.378A>G	ENSP00000453958.2:p.Gly126=
ENST00000674301.2:c.378A>G	ENSP00000501333.2:p.Gly126=
ENST00000316623.10:c.378A>G MANE Select	ENSP00000325527.5:p.Gly126=
ENST00000316623.9:c.378A>G	ENSP00000325527.5:p.Gly126=
ENST00000537463.6:c.378A>G	ENSP00000440294.2:p.Gly126=
NM_000138.4:c.378A>G , LRG_778t1:c.378A>G	NP_000129.3:p.Gly126=
NM_000138.5:c.378A>G MANE Select	NP_000129.3:p.Gly126=