Canonical Allele Identifier: CA392330860

Gene: FBN1

Linked Data

• MyVariant Identifiers: chr15:g.48720646C>G (hg19) ; chr15:g.48428449C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48428449C>G , CM000677.2:g.48428449C>G	GRCh38
NC_000015.9:g.48720646C>G , CM000677.1:g.48720646C>G	GRCh37
NC_000015.8:g.46507938C>G	NCBI36
NG_008805.2:g.222340G>C , LRG_778:g.222340G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.6894G>C	ENSP00000453958.2:p.Lys2298Asn
ENST00000674301.2:c.*345G>C	ENSP00000501333.2:n.*345G>C
ENST00000682170.1:n.503G>C
ENST00000682767.1:n.129G>C
ENST00000316623.10:c.6894G>C MANE Select	ENSP00000325527.5:p.Lys2298Asn
ENST00000674301.1:c.1998G>C	ENSP00000501333.1:n.1998G>C
ENST00000316623.9:c.6894G>C	ENSP00000325527.5:p.Lys2298Asn
ENST00000559133.5:c.2201G>C
ENST00000560720.1:n.181G>C
NM_000138.4:c.6894G>C , LRG_778t1:c.6894G>C	NP_000129.3:p.Lys2298Asn
NM_000138.5:c.6894G>C MANE Select	NP_000129.3:p.Lys2298Asn