Canonical Allele Identifier: CA2175529343

Gene: FBN1

Linked Data

• dbSNP Id: rs2043735059

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48508858A>G , CM000677.2:g.48508858A>G	GRCh38
NC_000015.9:g.48801055A>G , CM000677.1:g.48801055A>G	GRCh37
NC_000015.8:g.46588347A>G	NCBI36
NG_008805.2:g.141931T>C , LRG_778:g.141931T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.1715-154T>C	ENSP00000453958.2:n.1715-154T>C
ENST00000674301.2:c.1715-154T>C	ENSP00000501333.2:n.1715-154T>C
ENST00000684448.1:n.389-154T>C
ENST00000316623.10:c.1715-154T>C MANE Select	ENSP00000325527.5:n.1715-154T>C
ENST00000316623.9:c.1715-154T>C	ENSP00000325527.5:n.1715-154T>C
ENST00000537463.6:c.636+28853T>C	ENSP00000440294.2:n.636+28853T>C
NM_000138.4:c.1715-154T>C , LRG_778t1:c.1715-154T>C	NP_000129.3:n.1715-154T>C
NM_000138.5:c.1715-154T>C MANE Select	NP_000129.3:n.1715-154T>C