Canonical Allele Identifier: CA358515344
Gene: FGB HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.154569718C>T , CM000666.2:g.154569718C>T GRCh38
NC_000004.11:g.155490870C>T , CM000666.1:g.155490870C>T GRCh37
NC_000004.10:g.155710320C>T NCBI36
NG_008833.1:g.11739C>T , LRG_558:g.11739C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000302068.9:c.1163C>T MANE Select ENSP00000306099.4:p.Ser388Phe
ENST00000302068.8:c.1163C>T ENSP00000306099.4:p.Ser388Phe
ENST00000502545.5:n.939+411C>T
ENST00000509493.1:c.506C>T ENSP00000426757.1:p.Ser169Phe
NM_001184741.1:c.986C>T NP_001171670.1:p.Ser329Phe
NM_005141.4:c.1163C>T , LRG_558t1:c.1163C>T NP_005132.2:p.Ser388Phe
NM_001382759.1:c.1031C>T NP_001369688.1:p.Ser344Phe
NM_001382760.1:c.1163C>T NP_001369689.1:p.Ser388Phe
NM_001382761.1:c.1163C>T NP_001369690.1:p.Ser388Phe
NM_001382762.1:c.863C>T NP_001369691.1:p.Ser288Phe
NM_001382763.1:c.1154C>T NP_001369692.1:p.Ser385Phe
NM_001382764.1:c.1081-55C>T NP_001369693.1:n.1081-55C>T
NM_001382765.1:c.1163C>T NP_001369694.1:p.Ser388Phe
NM_005141.5:c.1163C>T MANE Select NP_005132.2:p.Ser388Phe