Canonical Allele Identifier: CA524596442

Gene: GFI1

Linked Data

• ClinVar Variation Id: 1940891
• ClinVar RCV Id: RCV002639568
• dbSNP Id: rs1353929678
• gnomAD v2: 1-92945899-G-T
• gnomAD v3: 1-92480342-G-T
• gnomAD v4: 1-92480342-G-T
• MyVariant Identifiers: chr1:g.92945899G>T (hg19) ; chr1:g.92480342G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.92480342G>T , CM000663.2:g.92480342G>T	GRCh38
NC_000001.10:g.92945899G>T , CM000663.1:g.92945899G>T	GRCh37
NC_000001.9:g.92718487G>T	NCBI36
NG_007874.1:g.11535C>A , LRG_63:g.11535C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000427103.6:c.924+6C>A	ENSP00000399719.1:n.924+6C>A
ENST00000696667.1:c.138+6C>A	ENSP00000512792.1:n.138+6C>A
ENST00000294702.6:c.924+6C>A MANE Select	ENSP00000294702.5:n.924+6C>A
ENST00000294702.5:c.924+6C>A	ENSP00000294702.5:n.924+6C>A
ENST00000370332.5:c.924+6C>A	ENSP00000359357.1:n.924+6C>A
ENST00000427103.5:c.924+6C>A	ENSP00000399719.1:n.924+6C>A
NM_001127215.1:c.924+6C>A	NP_001120687.1:n.924+6C>A
NM_001127216.1:c.924+6C>A	NP_001120688.1:n.924+6C>A
NM_005263.3:c.924+6C>A , LRG_63t1:c.924+6C>A	NP_005254.2:n.924+6C>A
XM_005270749.3:c.924+6C>A	XP_005270806.1:n.924+6C>A
XM_011541245.1:c.924+6C>A	XP_011539547.1:n.924+6C>A
XM_011541246.1:c.924+6C>A	XP_011539548.1:n.924+6C>A
NM_001127215.2:c.924+6C>A	NP_001120687.1:n.924+6C>A
NM_001127216.2:c.924+6C>A	NP_001120688.1:n.924+6C>A
NM_005263.4:c.924+6C>A	NP_005254.2:n.924+6C>A
XM_011541245.2:c.924+6C>A	XP_011539547.1:n.924+6C>A
XM_011541246.2:c.924+6C>A	XP_011539548.1:n.924+6C>A
NM_005263.5:c.924+6C>A MANE Select	NP_005254.2:n.924+6C>A
NM_001127215.3:c.924+6C>A	NP_001120687.1:n.924+6C>A
NM_001127216.3:c.924+6C>A	NP_001120688.1:n.924+6C>A