Canonical Allele Identifier: CA2992341711

Gene: GFI1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.92476016C>T , CM000663.2:g.92476016C>T	GRCh38
NC_000001.10:g.92941573C>T , CM000663.1:g.92941573C>T	GRCh37
NC_000001.9:g.92714161C>T	NCBI36
NG_007874.1:g.15861G>A , LRG_63:g.15861G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_005263.5:c.*13G>A MANE Select	NP_005254.2:n.*13G>A
ENST00000294702.6:c.*13G>A MANE Select	ENSP00000294702.5:n.*13G>A
NM_001127215.1:c.*13G>A	NP_001120687.1:n.*13G>A
NM_001127215.2:c.*13G>A	NP_001120687.1:n.*13G>A
NM_001127215.3:c.*13G>A	NP_001120687.1:n.*13G>A
NM_001127216.1:c.*13G>A	NP_001120688.1:n.*13G>A
NM_001127216.2:c.*13G>A	NP_001120688.1:n.*13G>A
NM_001127216.3:c.*13G>A	NP_001120688.1:n.*13G>A
NM_005263.3:c.*13G>A , LRG_63t1:c.*13G>A	NP_005254.2:n.*13G>A
NM_005263.4:c.*13G>A	NP_005254.2:n.*13G>A
ENST00000294702.5:c.*13G>A	ENSP00000294702.5:n.*13G>A
ENST00000370332.5:c.*13G>A	ENSP00000359357.1:n.*13G>A
ENST00000427103.5:c.*13G>A	ENSP00000399719.1:n.*13G>A
ENST00000427103.6:c.*13G>A	ENSP00000399719.1:n.*13G>A
ENST00000696667.1:c.330G>A	ENSP00000512792.1:p.Trp110Ter
XM_005270749.3:c.*13G>A	XP_005270806.1:n.*13G>A
XM_011541245.1:c.*13G>A	XP_011539547.1:n.*13G>A
XM_011541245.2:c.*13G>A	XP_011539547.1:n.*13G>A
XM_011541246.1:c.*13G>A	XP_011539548.1:n.*13G>A
XM_011541246.2:c.*13G>A	XP_011539548.1:n.*13G>A