Canonical Allele Identifier: CA392320221

Gene: FBN1

Linked Data

• ClinVar Variation Id: 457269
• ClinVar RCV Id: RCV000546431 ; RCV001181857 ; RCV000765217 ; RCV001591196 ; RCV002298645 ; RCV002282205
• dbSNP Id: rs376119827
• gnomAD v2: 15-48703571-C-G
• gnomAD v3: 15-48411374-C-G
• gnomAD v4: 15-48411374-C-G
• MyVariant Identifiers: chr15:g.48703571C>G (hg19) ; chr15:g.48411374C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48411374C>G , CM000677.2:g.48411374C>G	GRCh38
NC_000015.9:g.48703571C>G , CM000677.1:g.48703571C>G	GRCh37
NC_000015.8:g.46490863C>G	NCBI36
NG_008805.2:g.239415G>C , LRG_778:g.239415G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*1040G>C	ENSP00000453958.2:n.*1040G>C
ENST00000674301.2:c.*1745G>C	ENSP00000501333.2:n.*1745G>C
ENST00000682158.1:n.1613G>C
ENST00000682170.1:n.2413G>C
ENST00000682767.1:n.1529G>C
ENST00000316623.10:c.8232G>C MANE Select	ENSP00000325527.5:p.Gln2744His
ENST00000674301.1:c.3398G>C	ENSP00000501333.1:n.3398G>C
ENST00000316623.9:c.8232G>C	ENSP00000325527.5:p.Gln2744His
ENST00000559133.5:c.3601G>C
ENST00000561429.1:n.487G>C
NM_000138.4:c.8232G>C , LRG_778t1:c.8232G>C	NP_000129.3:p.Gln2744His
NM_000138.5:c.8232G>C MANE Select	NP_000129.3:p.Gln2744His