Canonical Allele Identifier: CA392339919

Gene: FBN1

Linked Data

• MyVariant Identifiers: chr15:g.48737573C>G (hg19) ; chr15:g.48445376C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48445376C>G , CM000677.2:g.48445376C>G	GRCh38
NC_000015.9:g.48737573C>G , CM000677.1:g.48737573C>G	GRCh37
NC_000015.8:g.46524865C>G	NCBI36
NG_008805.2:g.205413G>C , LRG_778:g.205413G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000559133.6:c.5917G>C	ENSP00000453958.2:p.Asp1973His
ENST00000674301.2:c.5917G>C	ENSP00000501333.2:p.Asp1973His
ENST00000684448.1:n.4591G>C
ENST00000316623.10:c.5917G>C MANE Select	ENSP00000325527.5:p.Asp1973His
ENST00000674301.1:c.916G>C	ENSP00000501333.1:p.Asp306His
ENST00000316623.9:c.5917G>C	ENSP00000325527.5:p.Asp1973His
ENST00000537463.6:c.*1680G>C	ENSP00000440294.2:n.*1680G>C
ENST00000559133.5:c.1224G>C
ENST00000560820.1:n.37G>C
NM_000138.4:c.5917G>C , LRG_778t1:c.5917G>C	NP_000129.3:p.Asp1973His
NM_000138.5:c.5917G>C MANE Select	NP_000129.3:p.Asp1973His