Canonical Allele Identifier: CA341147856
Gene: GFI1 HGNC NCBI
MyVariant.info:
Revel Score:

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.92476153T>G , CM000663.2:g.92476153T>G GRCh38
NC_000001.10:g.92941710T>G , CM000663.1:g.92941710T>G GRCh37
NC_000001.9:g.92714298T>G NCBI36
NG_007874.1:g.15724A>C , LRG_63:g.15724A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000427103.6:c.1145A>C ENSP00000399719.1:p.Asn382Thr
ENST00000696667.1:c.193A>C ENSP00000512792.1:p.Thr65Pro
ENST00000294702.6:c.1145A>C MANE Select ENSP00000294702.5:p.Asn382Thr
ENST00000294702.5:c.1145A>C ENSP00000294702.5:p.Asn382Thr
ENST00000370332.5:c.1145A>C ENSP00000359357.1:p.Asn382Thr
ENST00000427103.5:c.1145A>C ENSP00000399719.1:p.Asn382Thr
NM_001127215.1:c.1145A>C NP_001120687.1:p.Asn382Thr
NM_001127216.1:c.1145A>C NP_001120688.1:p.Asn382Thr
NM_005263.3:c.1145A>C , LRG_63t1:c.1145A>C NP_005254.2:p.Asn382Thr
XM_005270749.3:c.1145A>C XP_005270806.1:p.Asn382Thr
XM_011541245.1:c.1145A>C XP_011539547.1:p.Asn382Thr
XM_011541246.1:c.1145A>C XP_011539548.1:p.Asn382Thr
NM_001127215.2:c.1145A>C NP_001120687.1:p.Asn382Thr
NM_001127216.2:c.1145A>C NP_001120688.1:p.Asn382Thr
NM_005263.4:c.1145A>C NP_005254.2:p.Asn382Thr
XM_011541245.2:c.1145A>C XP_011539547.1:p.Asn382Thr
XM_011541246.2:c.1145A>C XP_011539548.1:p.Asn382Thr
NM_005263.5:c.1145A>C MANE Select NP_005254.2:p.Asn382Thr
NM_001127215.3:c.1145A>C NP_001120687.1:p.Asn382Thr
NM_001127216.3:c.1145A>C NP_001120688.1:p.Asn382Thr