Canonical Allele Identifier: CA056263

Gene: FBN1

Linked Data

• ClinVar Variation Id: 2948204
• ClinVar RCV Id: RCV003807026
• dbSNP Id: rs200681876
• ExAC: 15:48733970 T / C
• gnomAD v2: 15-48733970-T-C
• gnomAD v3: 15-48441773-T-C
• gnomAD v4: 15-48441773-T-C
• MyVariant Identifiers: chr15:g.48733970T>C (hg19) ; chr15:g.48441773T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48441773T>C , CM000677.2:g.48441773T>C	GRCh38
NC_000015.9:g.48733970T>C , CM000677.1:g.48733970T>C	GRCh37
NC_000015.8:g.46521262T>C	NCBI36
NG_008805.2:g.209016A>G , LRG_778:g.209016A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000559133.6:c.6111A>G	ENSP00000453958.2:p.Lys2037=
ENST00000674301.2:c.6111A>G	ENSP00000501333.2:p.Lys2037=
ENST00000316623.10:c.6111A>G MANE Select	ENSP00000325527.5:p.Lys2037=
ENST00000674301.1:c.1110A>G	ENSP00000501333.1:p.Lys370=
ENST00000316623.9:c.6111A>G	ENSP00000325527.5:p.Lys2037=
ENST00000537463.6:c.*1874A>G	ENSP00000440294.2:n.*1874A>G
ENST00000559133.5:c.1418A>G
ENST00000560820.1:n.231A>G
NM_000138.4:c.6111A>G , LRG_778t1:c.6111A>G	NP_000129.3:p.Lys2037=
NM_000138.5:c.6111A>G MANE Select	NP_000129.3:p.Lys2037=