Canonical Allele Identifier: CA392347783
Gene: FBN1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48520766T>C , CM000677.2:g.48520766T>C GRCh38
NC_000015.9:g.48812963T>C , CM000677.1:g.48812963T>C GRCh37
NC_000015.8:g.46600255T>C NCBI36
NG_008805.2:g.130023A>G , LRG_778:g.130023A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.1040A>G ENSP00000453958.2:p.Asn347Ser
ENST00000674301.2:c.1040A>G ENSP00000501333.2:p.Asn347Ser
ENST00000316623.10:c.1040A>G MANE Select ENSP00000325527.5:p.Asn347Ser
ENST00000316623.9:c.1040A>G ENSP00000325527.5:p.Asn347Ser
ENST00000537463.6:c.636+16945A>G ENSP00000440294.2:n.636+16945A>G
NM_000138.4:c.1040A>G , LRG_778t1:c.1040A>G NP_000129.3:p.Asn347Ser
NM_000138.5:c.1040A>G MANE Select NP_000129.3:p.Asn347Ser