Canonical Allele Identifier: CA044063

Gene: FBN1

Linked Data

• ClinVar Variation Id: 406316
• ClinVar RCV Id: RCV000458251 ; RCV000729437 ; RCV001194180 ; RCV001170560 ; RCV004000735
• dbSNP Id: rs377722423
• ExAC: 15:48936843 C / G
• gnomAD v2: 15-48936843-C-G
• gnomAD v3: 15-48644646-C-G
• gnomAD v4: 15-48644646-C-G
• MyVariant Identifiers: chr15:g.48936843C>G (hg19) ; chr15:g.48644646C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48644646C>G , CM000677.2:g.48644646C>G	GRCh38
NC_000015.9:g.48936843C>G , CM000677.1:g.48936843C>G	GRCh37
NC_000015.8:g.46724135C>G	NCBI36
NG_008805.2:g.6143G>C , LRG_778:g.6143G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.124G>C	ENSP00000453958.2:p.Ala42Pro
ENST00000674301.2:c.124G>C	ENSP00000501333.2:p.Ala42Pro
ENST00000316623.10:c.124G>C MANE Select	ENSP00000325527.5:p.Ala42Pro
ENST00000316623.9:c.124G>C	ENSP00000325527.5:p.Ala42Pro
ENST00000537463.6:c.124G>C	ENSP00000440294.2:p.Ala42Pro
ENST00000558230.1:n.187G>C
ENST00000560355.1:c.124G>C	ENSP00000453901.1:p.Ala42Pro
NM_000138.4:c.124G>C , LRG_778t1:c.124G>C	NP_000129.3:p.Ala42Pro
NM_000138.5:c.124G>C MANE Select	NP_000129.3:p.Ala42Pro