Canonical Allele Identifier: CA3080674217
Community Standard Title: NM_005263.5(GFI1):c.*17C=
Gene: GFI1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.92476012G= , CM000663.2:g.92476012G= GRCh38
NC_000001.10:g.92941569G= , CM000663.1:g.92941569G= GRCh37
NC_000001.9:g.92714157G= NCBI36
NG_007874.1:g.15865C= , LRG_63:g.15865C=

Transcript Alleles

HGVS Amino-acid Change
NM_005263.5:c.*17C= MANE Select NP_005254.2:n.*17C=
ENST00000294702.6:c.*17C= MANE Select ENSP00000294702.5:n.*17C=
NM_001127215.1:c.*17C= NP_001120687.1:n.*17C=
NM_001127215.2:c.*17C= NP_001120687.1:n.*17C=
NM_001127215.3:c.*17C= NP_001120687.1:n.*17C=
NM_001127216.1:c.*17C= NP_001120688.1:n.*17C=
NM_001127216.2:c.*17C= NP_001120688.1:n.*17C=
NM_001127216.3:c.*17C= NP_001120688.1:n.*17C=
NM_005263.3:c.*17C= , LRG_63t1:c.*17C= NP_005254.2:n.*17C=
NM_005263.4:c.*17C= NP_005254.2:n.*17C=
ENST00000294702.5:c.*17C= ENSP00000294702.5:n.*17C=
ENST00000370332.5:c.*17C= ENSP00000359357.1:n.*17C=
ENST00000427103.5:c.*17C= ENSP00000399719.1:n.*17C=
ENST00000427103.6:c.*17C= ENSP00000399719.1:n.*17C=
ENST00000696667.1:c.334C= ENSP00000512792.1:p.Gln112=
XM_005270749.3:c.*17C= XP_005270806.1:n.*17C=
XM_011541245.1:c.*17C= XP_011539547.1:n.*17C=
XM_011541245.2:c.*17C= XP_011539547.1:n.*17C=
XM_011541246.1:c.*17C= XP_011539548.1:n.*17C=
XM_011541246.2:c.*17C= XP_011539548.1:n.*17C=