Canonical Allele Identifier: CA217224
Gene: GFAP HGNC NCBI

Linked Data

ClinVar Variation Id: 66507
ClinVar RCV Id: RCV000056911 RCV000192149
dbSNP Id: rs58536923
MyVariant Identifiers: chr17:g.42989111T>C (hg19) chr17:g.44911743T>C (hg38)
PubMed: PMID:15732097 PMID:20301351
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44911743T>C , CM000679.2:g.44911743T>C GRCh38
NC_000017.10:g.42989111T>C , CM000679.1:g.42989111T>C GRCh37
NC_000017.9:g.40344637T>C NCBI36
NG_008401.1:g.8804A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000253408.11:c.835A>G ENSP00000253408.5:p.Lys279Glu
ENST00000435360.8:c.835A>G ENSP00000403962.1:p.Lys279Glu
ENST00000253408.10:c.835A>G ENSP00000253408.5:p.Lys279Glu
ENST00000435360.7:c.835A>G ENSP00000403962.1:p.Lys279Glu
ENST00000586127.6:n.1364A>G
ENST00000586793.6:c.835A>G ENSP00000468500.2:p.Lys279Glu
ENST00000587997.6:n.311A>G
ENST00000588735.3:c.835A>G MANE Select ENSP00000466598.2:p.Lys279Glu
ENST00000591327.2:n.1989A>G
ENST00000592320.6:c.619-422A>G ENSP00000465320.1:n.619-422A>G
ENST00000638281.1:c.835A>G ENSP00000491088.1:p.Lys279Glu
ENST00000638618.1:c.490A>G ENSP00000492832.1:p.Lys164Glu
ENST00000639277.1:c.835A>G ENSP00000492432.1:p.Lys279Glu
ENST00000640552.1:n.849A>G
ENST00000253408.9:c.835A>G ENSP00000253408.4:p.Lys279Glu
ENST00000376990.8:c.*234A>G ENSP00000366189.4:n.*234A>G
ENST00000435360.6:c.835A>G ENSP00000403962.1:p.Lys279Glu
ENST00000586793.5:c.835A>G ENSP00000468500.1:p.Lys279Glu
ENST00000587997.5:c.311A>G
ENST00000588316.1:c.739A>G ENSP00000465629.1:p.Lys247Glu
ENST00000588640.5:n.215A>G
ENST00000588735.1:c.83-3627A>G ENSP00000466598.1:n.83-3627A>G
ENST00000588957.5:c.103A>G ENSP00000465565.1:p.Lys35Glu
ENST00000590922.1:n.485A>G
ENST00000591719.5:n.469A>G
ENST00000592320.5:c.619-422A>G ENSP00000465320.1:n.619-422A>G
NM_001131019.2:c.835A>G NP_001124491.1:p.Lys279Glu
NM_001242376.1:c.835A>G NP_001229305.1:p.Lys279Glu
NM_002055.4:c.835A>G NP_002046.1:p.Lys279Glu
NM_001363846.1:c.835A>G NP_001350775.1:p.Lys279Glu
XM_024450690.1:c.1039A>G XP_024306458.1:p.Lys347Glu
XM_024450691.1:c.1039A>G XP_024306459.1:p.Lys347Glu
XM_024450692.1:c.1039A>G XP_024306460.1:p.Lys347Glu
XM_024450693.1:c.1039A>G XP_024306461.1:p.Lys347Glu
NM_002055.5:c.835A>G MANE Select NP_002046.1:p.Lys279Glu
NM_001131019.3:c.835A>G NP_001124491.1:p.Lys279Glu
NM_001242376.2:c.835A>G NP_001229305.1:p.Lys279Glu
NM_001242376.3:c.835A>G NP_001229305.1:p.Lys279Glu
NM_001363846.2:c.835A>G NP_001350775.1:p.Lys279Glu
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