Canonical Allele Identifier: CA617835401

Gene: FBN1

Linked Data

• dbSNP Id: rs1173858921
• gnomAD v2: 15-48776163-C-A
• gnomAD v4: 15-48483966-C-A
• MyVariant Identifiers: chr15:g.48776163C>A (hg19) ; chr15:g.48483966C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48483966C>A , CM000677.2:g.48483966C>A	GRCh38
NC_000015.9:g.48776163C>A , CM000677.1:g.48776163C>A	GRCh37
NC_000015.8:g.46563455C>A	NCBI36
NG_008805.2:g.166823G>T , LRG_778:g.166823G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.3713-23G>T	ENSP00000453958.2:n.3713-23G>T
ENST00000674301.2:c.3713-23G>T	ENSP00000501333.2:n.3713-23G>T
ENST00000684448.1:n.2387-23G>T
ENST00000316623.10:c.3713-23G>T MANE Select	ENSP00000325527.5:n.3713-23G>T
ENST00000316623.9:c.3713-23G>T	ENSP00000325527.5:n.3713-23G>T
ENST00000537463.6:c.637-9316G>T	ENSP00000440294.2:n.637-9316G>T
NM_000138.4:c.3713-23G>T , LRG_778t1:c.3713-23G>T	NP_000129.3:n.3713-23G>T
NM_000138.5:c.3713-23G>T MANE Select	NP_000129.3:n.3713-23G>T