Canonical Allele Identifier: CA490026019

Gene: FBN1

Linked Data

• ClinVar Variation Id: 925881
• ClinVar RCV Id: RCV001188054
• dbSNP Id: rs1272960714
• gnomAD v2: 15-48756157-G-C
• gnomAD v4: 15-48463960-G-C
• MyVariant Identifiers: chr15:g.48756157G>C (hg19) ; chr15:g.48463960G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48463960G>C , CM000677.2:g.48463960G>C	GRCh38
NC_000015.9:g.48756157G>C , CM000677.1:g.48756157G>C	GRCh37
NC_000015.8:g.46543449G>C	NCBI36
NG_008805.2:g.186829C>G , LRG_778:g.186829C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000559133.6:c.5004C>G	ENSP00000453958.2:p.Gly1668=
ENST00000674301.2:c.5004C>G	ENSP00000501333.2:p.Gly1668=
ENST00000684448.1:n.3678C>G
ENST00000316623.10:c.5004C>G MANE Select	ENSP00000325527.5:p.Gly1668=
ENST00000674301.1:c.3C>G	ENSP00000501333.1:p.Gly1=
ENST00000316623.9:c.5004C>G	ENSP00000325527.5:p.Gly1668=
ENST00000537463.6:c.*767C>G	ENSP00000440294.2:n.*767C>G
ENST00000559133.5:c.311C>G
NM_000138.4:c.5004C>G , LRG_778t1:c.5004C>G	NP_000129.3:p.Gly1668=
NM_000138.5:c.5004C>G MANE Select	NP_000129.3:p.Gly1668=