Canonical Allele Identifier: CA052067

Gene: FBN1

Linked Data

• ClinVar Variation Id: 444342
• ClinVar RCV Id: RCV000513577 ; RCV001192950 ; RCV000632049 ; RCV000772180 ; RCV004003587
• dbSNP Id: rs375402043
• ExAC: 15:48766567 G / A
• gnomAD v2: 15-48766567-G-A
• gnomAD v3: 15-48474370-G-A
• gnomAD v4: 15-48474370-G-A
• COSMIC: COSM3718487
• MyVariant Identifiers: chr15:g.48766567G>A (hg19) ; chr15:g.48474370G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48474370G>A , CM000677.2:g.48474370G>A	GRCh38
NC_000015.9:g.48766567G>A , CM000677.1:g.48766567G>A	GRCh37
NC_000015.8:g.46553859G>A	NCBI36
NG_008805.2:g.176419C>T , LRG_778:g.176419C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.4095C>T	ENSP00000453958.2:p.Asp1365=
ENST00000674301.2:c.4095C>T	ENSP00000501333.2:p.Asp1365=
ENST00000684448.1:n.2769C>T
ENST00000316623.10:c.4095C>T MANE Select	ENSP00000325527.5:p.Asp1365=
ENST00000316623.9:c.4095C>T	ENSP00000325527.5:p.Asp1365=
ENST00000537463.6:c.767C>T	ENSP00000440294.2:p.Thr256Met
NM_000138.4:c.4095C>T , LRG_778t1:c.4095C>T	NP_000129.3:p.Asp1365=
NM_000138.5:c.4095C>T MANE Select	NP_000129.3:p.Asp1365=