Canonical Allele Identifier: CA951234

Gene: GFI1

Linked Data

• ClinVar Variation Id: 954544
• ClinVar RCV Id: RCV001227014 ; RCV001819924
• dbSNP Id: rs367740686
• ExAC: 1:92941735 C / T
• gnomAD v2: 1-92941735-C-T
• gnomAD v3: 1-92476178-C-T
• gnomAD v4: 1-92476178-C-T
• MyVariant Identifiers: chr1:g.92941735C>T (hg19) ; chr1:g.92476178C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.92476178C>T , CM000663.2:g.92476178C>T	GRCh38
NC_000001.10:g.92941735C>T , CM000663.1:g.92941735C>T	GRCh37
NC_000001.9:g.92714323C>T	NCBI36
NG_007874.1:g.15699G>A , LRG_63:g.15699G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000427103.6:c.1120G>A	ENSP00000399719.1:p.Gly374Ser
ENST00000696667.1:c.168G>A	ENSP00000512792.1:p.Ala56=
ENST00000294702.6:c.1120G>A MANE Select	ENSP00000294702.5:p.Gly374Ser
ENST00000294702.5:c.1120G>A	ENSP00000294702.5:p.Gly374Ser
ENST00000370332.5:c.1120G>A	ENSP00000359357.1:p.Gly374Ser
ENST00000427103.5:c.1120G>A	ENSP00000399719.1:p.Gly374Ser
NM_001127215.1:c.1120G>A	NP_001120687.1:p.Gly374Ser
NM_001127216.1:c.1120G>A	NP_001120688.1:p.Gly374Ser
NM_005263.3:c.1120G>A , LRG_63t1:c.1120G>A	NP_005254.2:p.Gly374Ser
XM_005270749.3:c.1120G>A	XP_005270806.1:p.Gly374Ser
XM_011541245.1:c.1120G>A	XP_011539547.1:p.Gly374Ser
XM_011541246.1:c.1120G>A	XP_011539548.1:p.Gly374Ser
NM_001127215.2:c.1120G>A	NP_001120687.1:p.Gly374Ser
NM_001127216.2:c.1120G>A	NP_001120688.1:p.Gly374Ser
NM_005263.4:c.1120G>A	NP_005254.2:p.Gly374Ser
XM_011541245.2:c.1120G>A	XP_011539547.1:p.Gly374Ser
XM_011541246.2:c.1120G>A	XP_011539548.1:p.Gly374Ser
NM_005263.5:c.1120G>A MANE Select	NP_005254.2:p.Gly374Ser
NM_001127215.3:c.1120G>A	NP_001120687.1:p.Gly374Ser
NM_001127216.3:c.1120G>A	NP_001120688.1:p.Gly374Ser