Canonical Allele Identifier: CA217111
Gene: GFAP HGNC NCBI

Linked Data

ClinVar Variation Id: 66434
ClinVar RCV Id: RCV000056828 RCV000192167
dbSNP Id: rs58008462
MyVariant Identifiers: chr17:g.42988635A>G (hg19) chr17:g.44911267A>G (hg38)
PubMed: PMID:15732097 PMID:20301351
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44911267A>G , CM000679.2:g.44911267A>G GRCh38
NC_000017.10:g.42988635A>G , CM000679.1:g.42988635A>G GRCh37
NC_000017.9:g.40344161A>G NCBI36
NG_008401.1:g.9280T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000253408.11:c.1096T>C ENSP00000253408.5:p.Tyr366His
ENST00000435360.8:c.1096T>C ENSP00000403962.1:p.Tyr366His
ENST00000253408.10:c.1096T>C ENSP00000253408.5:p.Tyr366His
ENST00000435360.7:c.1096T>C ENSP00000403962.1:p.Tyr366His
ENST00000585543.6:n.249T>C
ENST00000586125.2:c.31T>C ENSP00000467397.2:p.Tyr11His
ENST00000586127.6:n.1625T>C
ENST00000586793.6:c.961T>C ENSP00000468500.2:p.Tyr321His
ENST00000587997.6:n.572T>C
ENST00000588735.3:c.1096T>C MANE Select ENSP00000466598.2:p.Tyr366His
ENST00000591327.2:n.2250T>C
ENST00000591880.2:c.26T>C
ENST00000592320.6:c.673T>C ENSP00000465320.1:p.Tyr225His
ENST00000638281.1:c.1096T>C ENSP00000491088.1:p.Tyr366His
ENST00000638304.1:c.15T>C
ENST00000638488.1:n.37T>C
ENST00000638618.1:c.751T>C ENSP00000492832.1:p.Tyr251His
ENST00000639042.1:c.33T>C
ENST00000639277.1:c.1096T>C ENSP00000492432.1:p.Tyr366His
ENST00000639921.1:c.53T>C
ENST00000640552.1:n.1110T>C
ENST00000253408.9:c.1096T>C ENSP00000253408.4:p.Tyr366His
ENST00000435360.6:c.1096T>C ENSP00000403962.1:p.Tyr366His
ENST00000585543.5:n.249T>C
ENST00000586793.5:c.1096T>C ENSP00000468500.1:p.Tyr366His
ENST00000588640.5:n.476T>C
ENST00000588735.1:c.83-3151T>C ENSP00000466598.1:n.83-3151T>C
ENST00000592320.5:c.673T>C ENSP00000465320.1:p.Tyr225His
NM_001131019.2:c.1096T>C NP_001124491.1:p.Tyr366His
NM_001242376.1:c.1096T>C NP_001229305.1:p.Tyr366His
NM_002055.4:c.1096T>C NP_002046.1:p.Tyr366His
NM_001363846.1:c.1096T>C NP_001350775.1:p.Tyr366His
XM_024450690.1:c.1300T>C XP_024306458.1:p.Tyr434His
XM_024450691.1:c.1300T>C XP_024306459.1:p.Tyr434His
XM_024450692.1:c.1300T>C XP_024306460.1:p.Tyr434His
XM_024450693.1:c.1300T>C XP_024306461.1:p.Tyr434His
NM_002055.5:c.1096T>C MANE Select NP_002046.1:p.Tyr366His
NM_001131019.3:c.1096T>C NP_001124491.1:p.Tyr366His
NM_001242376.2:c.1096T>C NP_001229305.1:p.Tyr366His
NM_001242376.3:c.1096T>C NP_001229305.1:p.Tyr366His
NM_001363846.2:c.1096T>C NP_001350775.1:p.Tyr366His
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