Canonical Allele Identifier: CA392345612

Gene: FBN1

Linked Data

• ClinVar Variation Id: 451043
• ClinVar RCV Id: RCV000589559 ; RCV001857995 ; RCV004003620
• dbSNP Id: rs779930519
• gnomAD v2: 15-48808496-G-C
• gnomAD v3: 15-48516299-G-C
• gnomAD v4: 15-48516299-G-C
• MyVariant Identifiers: chr15:g.48808496G>C (hg19) ; chr15:g.48516299G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48516299G>C , CM000677.2:g.48516299G>C	GRCh38
NC_000015.9:g.48808496G>C , CM000677.1:g.48808496G>C	GRCh37
NC_000015.8:g.46595788G>C	NCBI36
NG_008805.2:g.134490C>G , LRG_778:g.134490C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.1211C>G	ENSP00000453958.2:p.Pro404Arg
ENST00000674301.2:c.1211C>G	ENSP00000501333.2:p.Pro404Arg
ENST00000316623.10:c.1211C>G MANE Select	ENSP00000325527.5:p.Pro404Arg
ENST00000316623.9:c.1211C>G	ENSP00000325527.5:p.Pro404Arg
ENST00000537463.6:c.636+21412C>G	ENSP00000440294.2:n.636+21412C>G
NM_000138.4:c.1211C>G , LRG_778t1:c.1211C>G	NP_000129.3:p.Pro404Arg
NM_000138.5:c.1211C>G MANE Select	NP_000129.3:p.Pro404Arg