Canonical Allele Identifier: CA951515

Gene: GFI1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.92483439G>C , CM000663.2:g.92483439G>C	GRCh38
NC_000001.10:g.92948996G>C , CM000663.1:g.92948996G>C	GRCh37
NC_000001.9:g.92721584G>C	NCBI36
NG_007874.1:g.8438C>G , LRG_63:g.8438C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000427103.6:c.49C>G	ENSP00000399719.1:p.Gln17Glu
ENST00000696668.1:n.285-393C>G
ENST00000696669.1:c.49C>G	ENSP00000512794.1:p.Gln17Glu
ENST00000696670.1:c.49C>G	ENSP00000512795.1:p.Gln17Glu
ENST00000294702.6:c.49C>G MANE Select	ENSP00000294702.5:p.Gln17Glu
ENST00000294702.5:c.49C>G	ENSP00000294702.5:p.Gln17Glu
ENST00000370332.5:c.49C>G	ENSP00000359357.1:p.Gln17Glu
ENST00000427103.5:c.49C>G	ENSP00000399719.1:p.Gln17Glu
ENST00000483490.1:n.385C>G
NM_001127215.1:c.49C>G	NP_001120687.1:p.Gln17Glu
NM_001127216.1:c.49C>G	NP_001120688.1:p.Gln17Glu
NM_005263.3:c.49C>G , LRG_63t1:c.49C>G	NP_005254.2:p.Gln17Glu
XM_005270749.3:c.49C>G	XP_005270806.1:p.Gln17Glu
XM_011541245.1:c.49C>G	XP_011539547.1:p.Gln17Glu
XM_011541246.1:c.49C>G	XP_011539548.1:p.Gln17Glu
NM_001127215.2:c.49C>G	NP_001120687.1:p.Gln17Glu
NM_001127216.2:c.49C>G	NP_001120688.1:p.Gln17Glu
NM_005263.4:c.49C>G	NP_005254.2:p.Gln17Glu
XM_011541245.2:c.49C>G	XP_011539547.1:p.Gln17Glu
XM_011541246.2:c.49C>G	XP_011539548.1:p.Gln17Glu
NM_005263.5:c.49C>G MANE Select	NP_005254.2:p.Gln17Glu
NM_001127215.3:c.49C>G	NP_001120687.1:p.Gln17Glu
NM_001127216.3:c.49C>G	NP_001120688.1:p.Gln17Glu