Canonical Allele Identifier: CA119872

Gene: GFI1

Linked Data

• ClinVar Variation Id: 8739
• ClinVar RCV Id: RCV000009278 ; RCV001090225
• dbSNP Id: rs28936381
• MyVariant Identifiers: chr1:g.92941710T>C (hg19) ; chr1:g.92476153T>C (hg38)
• PubMed: PMID:12778173

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000427103.6:c.1145A>G	ENSP00000399719.1:p.Asn382Ser
ENST00000696667.1:c.193A>G	ENSP00000512792.1:p.Thr65Ala
ENST00000294702.6:c.1145A>G MANE Select	ENSP00000294702.5:p.Asn382Ser
ENST00000294702.5:c.1145A>G	ENSP00000294702.5:p.Asn382Ser
ENST00000370332.5:c.1145A>G	ENSP00000359357.1:p.Asn382Ser
ENST00000427103.5:c.1145A>G	ENSP00000399719.1:p.Asn382Ser
NM_001127215.1:c.1145A>G	NP_001120687.1:p.Asn382Ser
NM_001127216.1:c.1145A>G	NP_001120688.1:p.Asn382Ser
NM_005263.3:c.1145A>G , LRG_63t1:c.1145A>G	NP_005254.2:p.Asn382Ser
XM_005270749.3:c.1145A>G	XP_005270806.1:p.Asn382Ser
XM_011541245.1:c.1145A>G	XP_011539547.1:p.Asn382Ser
XM_011541246.1:c.1145A>G	XP_011539548.1:p.Asn382Ser
NM_001127215.2:c.1145A>G	NP_001120687.1:p.Asn382Ser
NM_001127216.2:c.1145A>G	NP_001120688.1:p.Asn382Ser
NM_005263.4:c.1145A>G	NP_005254.2:p.Asn382Ser
XM_011541245.2:c.1145A>G	XP_011539547.1:p.Asn382Ser
XM_011541246.2:c.1145A>G	XP_011539548.1:p.Asn382Ser
NM_005263.5:c.1145A>G MANE Select	NP_005254.2:p.Asn382Ser
NM_001127215.3:c.1145A>G	NP_001120687.1:p.Asn382Ser
NM_001127216.3:c.1145A>G	NP_001120688.1:p.Asn382Ser