Canonical Allele Identifier: CA119875
Gene: GFI1 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.92476090T>C
GRCh37 chr1:g.92941647T>C
Revel Score:
ENST00000370332 0.317
ENST00000427103 0.317
ENST00000294702 (MANE Select) 0.317
gnomAD v2:
1:92941647 T / C
gnomAD v3:
1:92476090 T / C
gnomAD v4:
chr1-92476090-T-C
Joint Max Group AF 0.00032406 (MID)
Genomes Max Group AF 0.00002846 (NFE)
Exomes Max Group AF 0.00014138 (MID)
ClinVar RCV:
RCV000009279
RCV000986339
ClinVar Variation:
8740
dbSNP:
28936382
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.92476090T>C , CM000663.2:g.92476090T>C GRCh38
NC_000001.10:g.92941647T>C , CM000663.1:g.92941647T>C GRCh37
NC_000001.9:g.92714235T>C NCBI36
NG_007874.1:g.15787A>G , LRG_63:g.15787A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000427103.6:c.1208A>G ENSP00000399719.1:p.Lys403Arg
ENST00000696667.1:c.256A>G ENSP00000512792.1:p.Arg86Gly
ENST00000294702.6:c.1208A>G MANE Select ENSP00000294702.5:p.Lys403Arg
ENST00000294702.5:c.1208A>G ENSP00000294702.5:p.Lys403Arg
ENST00000370332.5:c.1208A>G ENSP00000359357.1:p.Lys403Arg
ENST00000427103.5:c.1208A>G ENSP00000399719.1:p.Lys403Arg
NM_001127215.1:c.1208A>G NP_001120687.1:p.Lys403Arg
NM_001127216.1:c.1208A>G NP_001120688.1:p.Lys403Arg
NM_005263.3:c.1208A>G , LRG_63t1:c.1208A>G NP_005254.2:p.Lys403Arg
XM_005270749.3:c.1208A>G XP_005270806.1:p.Lys403Arg
XM_011541245.1:c.1208A>G XP_011539547.1:p.Lys403Arg
XM_011541246.1:c.1208A>G XP_011539548.1:p.Lys403Arg
NM_001127215.2:c.1208A>G NP_001120687.1:p.Lys403Arg
NM_001127216.2:c.1208A>G NP_001120688.1:p.Lys403Arg
NM_005263.4:c.1208A>G NP_005254.2:p.Lys403Arg
XM_011541245.2:c.1208A>G XP_011539547.1:p.Lys403Arg
XM_011541246.2:c.1208A>G XP_011539548.1:p.Lys403Arg
NM_005263.5:c.1208A>G MANE Select NP_005254.2:p.Lys403Arg
NM_001127215.3:c.1208A>G NP_001120687.1:p.Lys403Arg
NM_001127216.3:c.1208A>G NP_001120688.1:p.Lys403Arg
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