Canonical Allele Identifier: CA10583252

Gene: FBN1

Linked Data

• ClinVar Variation Id: 237082
• ClinVar RCV Id: RCV000607743 ; RCV001406817 ; RCV001184020 ; RCV003998703 ; RCV004541366
• dbSNP Id: rs878853675
• gnomAD v2: 15-48796143-A-G
• gnomAD v3: 15-48503946-A-G
• gnomAD v4: 15-48503946-A-G
• MyVariant Identifiers: chr15:g.48796143A>G (hg19) ; chr15:g.48503946A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48503946A>G , CM000677.2:g.48503946A>G	GRCh38
NC_000015.9:g.48796143A>G , CM000677.1:g.48796143A>G	GRCh37
NC_000015.8:g.46583435A>G	NCBI36
NG_008805.2:g.146843T>C , LRG_778:g.146843T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.1961-7T>C	ENSP00000453958.2:n.1961-7T>C
ENST00000674301.2:c.1961-7T>C	ENSP00000501333.2:n.1961-7T>C
ENST00000684448.1:n.635-7T>C
ENST00000316623.10:c.1961-7T>C MANE Select	ENSP00000325527.5:n.1961-7T>C
ENST00000316623.9:c.1961-7T>C	ENSP00000325527.5:n.1961-7T>C
ENST00000537463.6:c.637-29296T>C	ENSP00000440294.2:n.637-29296T>C
NM_000138.4:c.1961-7T>C , LRG_778t1:c.1961-7T>C	NP_000129.3:n.1961-7T>C
NM_000138.5:c.1961-7T>C MANE Select	NP_000129.3:n.1961-7T>C