Canonical Allele Identifier: CA490015195
Gene: FBN1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr15:g.48766738G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48474541G>C , CM000677.2:g.48474541G>C GRCh38
NC_000015.9:g.48766738G>C , CM000677.1:g.48766738G>C GRCh37
NC_000015.8:g.46554030G>C NCBI36
NG_008805.2:g.176248C>G , LRG_778:g.176248C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.4074C>G ENSP00000453958.2:p.Gly1358=
ENST00000674301.2:c.4074C>G ENSP00000501333.2:p.Gly1358=
ENST00000684448.1:n.2748C>G
ENST00000316623.10:c.4074C>G MANE Select ENSP00000325527.5:p.Gly1358=
ENST00000316623.9:c.4074C>G ENSP00000325527.5:p.Gly1358=
ENST00000537463.6:c.746C>G ENSP00000440294.2:p.Ala249Gly
NM_000138.4:c.4074C>G , LRG_778t1:c.4074C>G NP_000129.3:p.Gly1358=
NM_000138.5:c.4074C>G MANE Select NP_000129.3:p.Gly1358=