Canonical Allele Identifier: CA490013544

Gene: FBN1

Linked Data

• ClinVar Variation Id: 2935164
• ClinVar RCV Id: RCV003790818
• MyVariant Identifiers: chr15:g.48764830G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48472633G>C , CM000677.2:g.48472633G>C	GRCh38
NC_000015.9:g.48764830G>C , CM000677.1:g.48764830G>C	GRCh37
NC_000015.8:g.46552122G>C	NCBI36
NG_008805.2:g.178156C>G , LRG_778:g.178156C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000559133.6:c.4254C>G	ENSP00000453958.2:p.Gly1418=
ENST00000674301.2:c.4254C>G	ENSP00000501333.2:p.Gly1418=
ENST00000683268.1:n.221C>G
ENST00000684448.1:n.2928C>G
ENST00000316623.10:c.4254C>G MANE Select	ENSP00000325527.5:p.Gly1418=
ENST00000316623.9:c.4254C>G	ENSP00000325527.5:p.Gly1418=
ENST00000537463.6:c.*17C>G	ENSP00000440294.2:n.*17C>G
NM_000138.4:c.4254C>G , LRG_778t1:c.4254C>G	NP_000129.3:p.Gly1418=
NM_000138.5:c.4254C>G MANE Select	NP_000129.3:p.Gly1418=