Canonical Allele Identifier: CA2175525986

Gene: FBN1

Linked Data

• dbSNP Id: rs2043582911

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48494101T>A , CM000677.2:g.48494101T>A	GRCh38
NC_000015.9:g.48786298T>A , CM000677.1:g.48786298T>A	GRCh37
NC_000015.8:g.46573590T>A	NCBI36
NG_008805.2:g.156688A>T , LRG_778:g.156688A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.2728+103A>T	ENSP00000453958.2:n.2728+103A>T
ENST00000674301.2:c.2728+103A>T	ENSP00000501333.2:n.2728+103A>T
ENST00000684448.1:n.1402+103A>T
ENST00000316623.10:c.2728+103A>T MANE Select	ENSP00000325527.5:n.2728+103A>T
ENST00000316623.9:c.2728+103A>T	ENSP00000325527.5:n.2728+103A>T
ENST00000537463.6:c.637-19451A>T	ENSP00000440294.2:n.637-19451A>T
NM_000138.4:c.2728+103A>T , LRG_778t1:c.2728+103A>T	NP_000129.3:n.2728+103A>T
NM_000138.5:c.2728+103A>T MANE Select	NP_000129.3:n.2728+103A>T