Canonical Allele Identifier: CA10583243

Gene: FBN1

Linked Data

• ClinVar Variation Id: 237095
• ClinVar RCV Id: RCV000827550 ; RCV001087425 ; RCV001185254 ; RCV003488482 ; RCV003998705
• dbSNP Id: rs377369765
• gnomAD v2: 15-48755444-G-C
• gnomAD v3: 15-48463247-G-C
• gnomAD v4: 15-48463247-G-C
• MyVariant Identifiers: chr15:g.48755444G>C (hg19) ; chr15:g.48463247G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48463247G>C , CM000677.2:g.48463247G>C	GRCh38
NC_000015.9:g.48755444G>C , CM000677.1:g.48755444G>C	GRCh37
NC_000015.8:g.46542736G>C	NCBI36
NG_008805.2:g.187542C>G , LRG_778:g.187542C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.5066-7C>G	ENSP00000453958.2:n.5066-7C>G
ENST00000674301.2:c.5066-7C>G	ENSP00000501333.2:n.5066-7C>G
ENST00000684448.1:n.3740-7C>G
ENST00000316623.10:c.5066-7C>G MANE Select	ENSP00000325527.5:n.5066-7C>G
ENST00000674301.1:c.65-7C>G	ENSP00000501333.1:n.65-7C>G
ENST00000316623.9:c.5066-7C>G	ENSP00000325527.5:n.5066-7C>G
ENST00000537463.6:c.*829-7C>G	ENSP00000440294.2:n.*829-7C>G
ENST00000559133.5:c.373-7C>G
NM_000138.4:c.5066-7C>G , LRG_778t1:c.5066-7C>G	NP_000129.3:n.5066-7C>G
NM_000138.5:c.5066-7C>G MANE Select	NP_000129.3:n.5066-7C>G