Canonical Allele Identifier: CA617835036

Gene: FBN1

Linked Data

• dbSNP Id: rs1182717287
• gnomAD v2: 15-48726582-G-A
• gnomAD v3: 15-48434385-G-A
• gnomAD v4: 15-48434385-G-A
• MyVariant Identifiers: chr15:g.48726582G>A (hg19) ; chr15:g.48434385G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48434385G>A , CM000677.2:g.48434385G>A	GRCh38
NC_000015.9:g.48726582G>A , CM000677.1:g.48726582G>A	GRCh37
NC_000015.8:g.46513874G>A	NCBI36
NG_008805.2:g.216404C>T , LRG_778:g.216404C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.6616+209C>T	ENSP00000453958.2:n.6616+209C>T
ENST00000674301.2:c.6617-173C>T	ENSP00000501333.2:n.6617-173C>T
ENST00000682170.1:n.225+209C>T
ENST00000316623.10:c.6616+209C>T MANE Select	ENSP00000325527.5:n.6616+209C>T
ENST00000674301.1:c.1616-173C>T	ENSP00000501333.1:n.1616-173C>T
ENST00000316623.9:c.6616+209C>T	ENSP00000325527.5:n.6616+209C>T
ENST00000537463.6:c.*2379+209C>T	ENSP00000440294.2:n.*2379+209C>T
ENST00000559133.5:c.1923+209C>T
NM_000138.4:c.6616+209C>T , LRG_778t1:c.6616+209C>T	NP_000129.3:n.6616+209C>T
NM_000138.5:c.6616+209C>T MANE Select	NP_000129.3:n.6616+209C>T