Canonical Allele Identifier: CA048517

Gene: FBN1

Linked Data

• ClinVar Variation Id: 852682
• ClinVar RCV Id: RCV001057340 ; RCV001187882 ; RCV001194181 ; RCV003393822
• dbSNP Id: rs778951277
• ExAC: 15:48786418 T / C
• gnomAD v2: 15-48786418-T-C
• gnomAD v3: 15-48494221-T-C
• gnomAD v4: 15-48494221-T-C
• MyVariant Identifiers: chr15:g.48786418T>C (hg19) ; chr15:g.48494221T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48494221T>C , CM000677.2:g.48494221T>C	GRCh38
NC_000015.9:g.48786418T>C , CM000677.1:g.48786418T>C	GRCh37
NC_000015.8:g.46573710T>C	NCBI36
NG_008805.2:g.156568A>G , LRG_778:g.156568A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000559133.6:c.2711A>G	ENSP00000453958.2:p.Lys904Arg
ENST00000674301.2:c.2711A>G	ENSP00000501333.2:p.Lys904Arg
ENST00000684448.1:n.1385A>G
ENST00000316623.10:c.2711A>G MANE Select	ENSP00000325527.5:p.Lys904Arg
ENST00000316623.9:c.2711A>G	ENSP00000325527.5:p.Lys904Arg
ENST00000537463.6:c.637-19571A>G	ENSP00000440294.2:n.637-19571A>G
NM_000138.4:c.2711A>G , LRG_778t1:c.2711A>G	NP_000129.3:p.Lys904Arg
NM_000138.5:c.2711A>G MANE Select	NP_000129.3:p.Lys904Arg