Canonical Allele Identifier: CA217120
Gene: GFAP HGNC NCBI

Linked Data

ClinVar Variation Id: 66441
ClinVar RCV Id: RCV000056835 RCV000192176
dbSNP Id: rs59628143
MyVariant Identifiers: chr17:g.42988610T>C (hg19) chr17:g.44911242T>C (hg38)
PubMed: PMID:15732097 PMID:20301351
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44911242T>C , CM000679.2:g.44911242T>C GRCh38
NC_000017.10:g.42988610T>C , CM000679.1:g.42988610T>C GRCh37
NC_000017.9:g.40344136T>C NCBI36
NG_008401.1:g.9305A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000253408.11:c.1121A>G ENSP00000253408.5:p.Glu374Gly
ENST00000435360.8:c.1121A>G ENSP00000403962.1:p.Glu374Gly
ENST00000253408.10:c.1121A>G ENSP00000253408.5:p.Glu374Gly
ENST00000435360.7:c.1121A>G ENSP00000403962.1:p.Glu374Gly
ENST00000585543.6:n.274A>G
ENST00000586125.2:c.56A>G ENSP00000467397.2:p.Glu19Gly
ENST00000586127.6:n.1650A>G
ENST00000586793.6:c.986A>G ENSP00000468500.2:p.Glu329Gly
ENST00000587997.6:n.597A>G
ENST00000588735.3:c.1121A>G MANE Select ENSP00000466598.2:p.Glu374Gly
ENST00000591327.2:n.2275A>G
ENST00000591880.2:c.51A>G
ENST00000592320.6:c.698A>G ENSP00000465320.1:p.Glu233Gly
ENST00000638281.1:c.1121A>G ENSP00000491088.1:p.Glu374Gly
ENST00000638304.1:c.40A>G
ENST00000638488.1:n.62A>G
ENST00000638618.1:c.776A>G ENSP00000492832.1:p.Glu259Gly
ENST00000639042.1:c.58A>G
ENST00000639277.1:c.1121A>G ENSP00000492432.1:p.Glu374Gly
ENST00000639921.1:c.78A>G
ENST00000640552.1:n.1135A>G
ENST00000253408.9:c.1121A>G ENSP00000253408.4:p.Glu374Gly
ENST00000435360.6:c.1121A>G ENSP00000403962.1:p.Glu374Gly
ENST00000585543.5:n.274A>G
ENST00000586793.5:c.1121A>G ENSP00000468500.1:p.Glu374Gly
ENST00000588640.5:n.501A>G
ENST00000588735.1:c.83-3126A>G ENSP00000466598.1:n.83-3126A>G
ENST00000592320.5:c.698A>G ENSP00000465320.1:p.Glu233Gly
NM_001131019.2:c.1121A>G NP_001124491.1:p.Glu374Gly
NM_001242376.1:c.1121A>G NP_001229305.1:p.Glu374Gly
NM_002055.4:c.1121A>G NP_002046.1:p.Glu374Gly
NM_001363846.1:c.1121A>G NP_001350775.1:p.Glu374Gly
XM_024450690.1:c.1325A>G XP_024306458.1:p.Glu442Gly
XM_024450691.1:c.1325A>G XP_024306459.1:p.Glu442Gly
XM_024450692.1:c.1325A>G XP_024306460.1:p.Glu442Gly
XM_024450693.1:c.1325A>G XP_024306461.1:p.Glu442Gly
NM_002055.5:c.1121A>G MANE Select NP_002046.1:p.Glu374Gly
NM_001131019.3:c.1121A>G NP_001124491.1:p.Glu374Gly
NM_001242376.2:c.1121A>G NP_001229305.1:p.Glu374Gly
NM_001242376.3:c.1121A>G NP_001229305.1:p.Glu374Gly
NM_001363846.2:c.1121A>G NP_001350775.1:p.Glu374Gly
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