Canonical Allele Identifier: CA052542

Gene: FBN1

Linked Data

• ClinVar Variation Id: 519751
• ClinVar RCV Id: RCV001175568 ; RCV001868122 ; RCV002314344 ; RCV004544810
• dbSNP Id: rs764099050
• ExAC: 15:48764744 T / G
• gnomAD v2: 15-48764744-T-G
• gnomAD v3: 15-48472547-T-G
• gnomAD v4: 15-48472547-T-G
• MyVariant Identifiers: chr15:g.48764744T>G (hg19) ; chr15:g.48472547T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48472547T>G , CM000677.2:g.48472547T>G	GRCh38
NC_000015.9:g.48764744T>G , CM000677.1:g.48764744T>G	GRCh37
NC_000015.8:g.46552036T>G	NCBI36
NG_008805.2:g.178242A>C , LRG_778:g.178242A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.4336+4A>C	ENSP00000453958.2:n.4336+4A>C
ENST00000674301.2:c.4336+4A>C	ENSP00000501333.2:n.4336+4A>C
ENST00000683268.1:n.303+4A>C
ENST00000684448.1:n.3010+4A>C
ENST00000316623.10:c.4336+4A>C MANE Select	ENSP00000325527.5:n.4336+4A>C
ENST00000316623.9:c.4336+4A>C	ENSP00000325527.5:n.4336+4A>C
ENST00000537463.6:c.*99+4A>C	ENSP00000440294.2:n.*99+4A>C
NM_000138.4:c.4336+4A>C , LRG_778t1:c.4336+4A>C	NP_000129.3:n.4336+4A>C
NM_000138.5:c.4336+4A>C MANE Select	NP_000129.3:n.4336+4A>C