Canonical Allele Identifier: CA052473

Gene: FBN1

Linked Data

• ClinVar Variation Id: 457209
• ClinVar RCV Id: RCV000544870 ; RCV001181854 ; RCV002497066 ; RCV004003786
• dbSNP Id: rs755085498
• ExAC: 15:48764768 G / C
• gnomAD v2: 15-48764768-G-C
• gnomAD v3: 15-48472571-G-C
• gnomAD v4: 15-48472571-G-C
• MyVariant Identifiers: chr15:g.48764768G>C (hg19) ; chr15:g.48472571G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48472571G>C , CM000677.2:g.48472571G>C	GRCh38
NC_000015.9:g.48764768G>C , CM000677.1:g.48764768G>C	GRCh37
NC_000015.8:g.46552060G>C	NCBI36
NG_008805.2:g.178218C>G , LRG_778:g.178218C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.4316C>G	ENSP00000453958.2:p.Ala1439Gly
ENST00000674301.2:c.4316C>G	ENSP00000501333.2:p.Ala1439Gly
ENST00000683268.1:n.283C>G
ENST00000684448.1:n.2990C>G
ENST00000316623.10:c.4316C>G MANE Select	ENSP00000325527.5:p.Ala1439Gly
ENST00000316623.9:c.4316C>G	ENSP00000325527.5:p.Ala1439Gly
ENST00000537463.6:c.*79C>G	ENSP00000440294.2:n.*79C>G
NM_000138.4:c.4316C>G , LRG_778t1:c.4316C>G	NP_000129.3:p.Ala1439Gly
NM_000138.5:c.4316C>G MANE Select	NP_000129.3:p.Ala1439Gly