Canonical Allele Identifier: CA046073

Gene: FBN1

Linked Data

• ClinVar Variation Id: 316383
• ClinVar RCV Id: RCV000261680 ; RCV000314567 ; RCV000317788 ; RCV000329612 ; RCV000356505 ; RCV000369312 ; RCV000372486 ; RCV000439166 ; RCV000873938 ; RCV004537782
• dbSNP Id: rs56102085
• ExAC: 15:48800770 A / G
• gnomAD v2: 15-48800770-A-G
• gnomAD v3: 15-48508573-A-G
• gnomAD v4: 15-48508573-A-G
• MyVariant Identifiers: chr15:g.48800770A>G (hg19) ; chr15:g.48508573A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48508573A>G , CM000677.2:g.48508573A>G	GRCh38
NC_000015.9:g.48800770A>G , CM000677.1:g.48800770A>G	GRCh37
NC_000015.8:g.46588062A>G	NCBI36
NG_008805.2:g.142216T>C , LRG_778:g.142216T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.1837+9T>C	ENSP00000453958.2:n.1837+9T>C
ENST00000674301.2:c.1837+9T>C	ENSP00000501333.2:n.1837+9T>C
ENST00000684448.1:n.511+9T>C
ENST00000316623.10:c.1837+9T>C MANE Select	ENSP00000325527.5:n.1837+9T>C
ENST00000316623.9:c.1837+9T>C	ENSP00000325527.5:n.1837+9T>C
ENST00000537463.6:c.636+29138T>C	ENSP00000440294.2:n.636+29138T>C
NM_000138.4:c.1837+9T>C , LRG_778t1:c.1837+9T>C	NP_000129.3:n.1837+9T>C
NM_000138.5:c.1837+9T>C MANE Select	NP_000129.3:n.1837+9T>C