Canonical Allele Identifier: CA338219584
Community Standard Title: NM_018948.4(ERRFI1):c.1150G>T (p.Glu384Ter)
Gene: ERRFI1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.8013449C>A , CM000663.2:g.8013449C>A GRCh38
NC_000001.10:g.8073509C>A , CM000663.1:g.8073509C>A GRCh37
NC_000001.9:g.7996096C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_018948.4:c.1150G>T MANE Select NP_061821.1:p.Glu384Ter
ENST00000377482.10:c.1150G>T MANE Select ENSP00000366702.5:p.Glu384Ter
NM_018948.3:c.1150G>T NP_061821.1:p.Glu384Ter
ENST00000377482.9:c.1150G>T ENSP00000366702.5:p.Glu384Ter
ENST00000467067.1:c.*1821G>T ENSP00000465100.1:n.*1821G>T
ENST00000474874.5:c.125+2046G>T ENSP00000466958.1:n.125+2046G>T
XM_005263477.1:c.997G>T XP_005263534.1:p.Glu333Ter
XM_005263477.3:c.997G>T XP_005263534.1:p.Glu333Ter
XM_006710697.2:c.1150G>T XP_006710760.1:p.Glu384Ter
XM_006710697.3:c.1150G>T XP_006710760.1:p.Glu384Ter
XM_011541596.1:c.925G>T XP_011539898.1:p.Glu309Ter
XM_011541596.3:c.925G>T XP_011539898.1:p.Glu309Ter
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