Canonical Allele Identifier: CA013544

Gene: FBN1

Linked Data

• ClinVar Variation Id: 195848
• ClinVar RCV Id: RCV000176520 ; RCV000230049 ; RCV001190471 ; RCV004528938 ; RCV002478578 ; RCV003995686
• dbSNP Id: rs199682686
• ExAC: 15:48782200 A / C
• gnomAD v2: 15-48782200-A-C
• gnomAD v3: 15-48490003-A-C
• gnomAD v4: 15-48490003-A-C
• MyVariant Identifiers: chr15:g.48782200A>C (hg19) ; chr15:g.48490003A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48490003A>C , CM000677.2:g.48490003A>C	GRCh38
NC_000015.9:g.48782200A>C , CM000677.1:g.48782200A>C	GRCh37
NC_000015.8:g.46569492A>C	NCBI36
NG_008805.2:g.160786T>G , LRG_778:g.160786T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.2930T>G	ENSP00000453958.2:p.Met977Arg
ENST00000674301.2:c.2930T>G	ENSP00000501333.2:p.Met977Arg
ENST00000684448.1:n.1604T>G
ENST00000316623.10:c.2930T>G MANE Select	ENSP00000325527.5:p.Met977Arg
ENST00000316623.9:c.2930T>G	ENSP00000325527.5:p.Met977Arg
ENST00000537463.6:c.637-15353T>G	ENSP00000440294.2:n.637-15353T>G
NM_000138.4:c.2930T>G , LRG_778t1:c.2930T>G	NP_000129.3:p.Met977Arg
NM_000138.5:c.2930T>G MANE Select	NP_000129.3:p.Met977Arg