Canonical Allele Identifier: CA392333677

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48432971G>A , CM000677.2:g.48432971G>A	GRCh38
NC_000015.9:g.48725168G>A , CM000677.1:g.48725168G>A	GRCh37
NC_000015.8:g.46512460G>A	NCBI36
NG_008805.2:g.217818C>T , LRG_778:g.217818C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000138.5:c.6634C>T MANE Select	NP_000129.3:p.Gln2212Ter
ENST00000316623.10:c.6634C>T MANE Select	ENSP00000325527.5:p.Gln2212Ter
NM_000138.4:c.6634C>T , LRG_778t1:c.6634C>T	NP_000129.3:p.Gln2212Ter
ENST00000316623.9:c.6634C>T	ENSP00000325527.5:p.Gln2212Ter
ENST00000537463.6:c.*2397C>T	ENSP00000440294.2:n.*2397C>T
ENST00000559133.5:c.1941C>T
ENST00000559133.6:c.6634C>T	ENSP00000453958.2:p.Gln2212Ter
ENST00000674301.1:c.1738C>T	ENSP00000501333.1:n.1738C>T
ENST00000674301.2:c.*85C>T	ENSP00000501333.2:n.*85C>T
ENST00000682170.1:n.243C>T