Canonical Allele Identifier: CA2628332347

Gene: FBN1

Linked Data

• gnomAD v4: 15-48432828-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48432828G>C , CM000677.2:g.48432828G>C	GRCh38
NC_000015.9:g.48725025G>C , CM000677.1:g.48725025G>C	GRCh37
NC_000015.8:g.46512317G>C	NCBI36
NG_008805.2:g.217961C>G , LRG_778:g.217961C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.6739+38C>G	ENSP00000453958.2:n.6739+38C>G
ENST00000674301.2:c.*190+38C>G	ENSP00000501333.2:n.*190+38C>G
ENST00000682170.1:n.348+38C>G
ENST00000316623.10:c.6739+38C>G MANE Select	ENSP00000325527.5:n.6739+38C>G
ENST00000674301.1:c.1843+38C>G	ENSP00000501333.1:n.1843+38C>G
ENST00000316623.9:c.6739+38C>G	ENSP00000325527.5:n.6739+38C>G
ENST00000537463.6:c.*2502+38C>G	ENSP00000440294.2:n.*2502+38C>G
ENST00000559133.5:c.2046+38C>G
ENST00000560720.1:n.26+38C>G
NM_000138.4:c.6739+38C>G , LRG_778t1:c.6739+38C>G	NP_000129.3:n.6739+38C>G
NM_000138.5:c.6739+38C>G MANE Select	NP_000129.3:n.6739+38C>G