Canonical Allele Identifier: CA392332706

Gene: FBN1

Linked Data

• ClinVar Variation Id: 2940505
• ClinVar RCV Id: RCV003799815
• MyVariant Identifiers: chr15:g.48722966C>G (hg19) ; chr15:g.48430769C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48430769C>G , CM000677.2:g.48430769C>G	GRCh38
NC_000015.9:g.48722966C>G , CM000677.1:g.48722966C>G	GRCh37
NC_000015.8:g.46510258C>G	NCBI36
NG_008805.2:g.220020G>C , LRG_778:g.220020G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000559133.6:c.6773G>C	ENSP00000453958.2:p.Cys2258Ser
ENST00000674301.2:c.*224G>C	ENSP00000501333.2:n.*224G>C
ENST00000682170.1:n.382G>C
ENST00000316623.10:c.6773G>C MANE Select	ENSP00000325527.5:p.Cys2258Ser
ENST00000674301.1:c.1877G>C	ENSP00000501333.1:n.1877G>C
ENST00000316623.9:c.6773G>C	ENSP00000325527.5:p.Cys2258Ser
ENST00000537463.6:c.*2536G>C	ENSP00000440294.2:n.*2536G>C
ENST00000559133.5:c.2080G>C
ENST00000560720.1:n.60G>C
NM_000138.4:c.6773G>C , LRG_778t1:c.6773G>C	NP_000129.3:p.Cys2258Ser
NM_000138.5:c.6773G>C MANE Select	NP_000129.3:p.Cys2258Ser